What do chronic migraines, irritable bowel syndrome, and autism all have in common? All of these conditions can be caused by a faulty enzyme called MTHFR. While it may look like an abbreviation for a curse word, MTHFR actually stands for methylenetetrahydrofolate reductase. This little enzyme plays a very important role in the body.
MTHFR is essential for a process called methylation which plays a role in processing, metabolizing, and converting certain nutrients into active compounds that can be effectively used by the body.1
But if you have a genetic mutation in the gene that tells your body how to make MTHFR, it can cause trouble for your health. Luckily, you are not entirely at the mercy of your genetics, and there are some simple steps you can take to manage this mutation.
What is Methylation? And Why is it Important?
To understand how to manage an MTHFR gene mutation, you must first understand methylation. Methylation is a core process that occurs in all cells to help your body make biochemical conversions.
In simplest terms, methylation is the act of a single carbon atom and three hydrogen atoms (this is called a methyl group) attaching to another molecule. Conversely, when a methyl group is removed from a molecule, it is called demethylation.
When a methyl group is added or removed, it triggers the molecule to perform a specific action. Think of it as lots of tiny on and off switches in your body that control everything from your brain chemistry to your immune system. Methylation is a big deal—every cell in your body uses it and it impacts nearly every bodily function.
The methylation process plays a major role in:2
- Cellular repair
- Synthesis of nucleic acids, production and repair of DNA and mRNA
- Regulation of gene expression
- Neurotransmitter production
- Interconversion of amino acids
- Healthy immune system function
- Formation and maturation of red blood cells, white blood cells, and platelet production
- Detoxification of heavy metals, chemicals, and hormones
- Glutathione production (glutathione is one of the major molecules in the detoxification cycle and is an important antioxidant)
- Histamine breakdown
- Conversion of homocysteine into methionine
One particularly important role of methylation is to methylate or activate your B vitamins. B vitamins must be converted into their active form to be used properly by our bodies. If inactivated forms of B vitamins are consumed and the body is unable to convert them, they are unable to perform their key functions in the body. This creates a deficiency and can even become toxic.
What is an MTHFR Gene Mutation?
Your genes are like the instruction manual your body follows to perform every single biochemical function. And the role of the MTHFR gene is solely to instruct the body on how to produce the MTHFR enzyme. When your MTHFR gene is mutated, it sends out faulty instructions resulting in inadequate production of the MTHFR enzyme.
It is estimated that up to 40% of the population has an MTHFR gene mutation. But the effects of this mutation can vary greatly depending on the type of mutation a person has. There are numerous possibilities when it comes to MTHFR gene mutations, and science is still working to understand them all.
The reason there is so much variation in MTHFR gene mutation is because our parents pass on two sets of genes. So if both parents pass on a healthy gene, you won’t have any mutation at all. If one parent has a healthy gene and the other passes on a mutation, several variations of the mutated gene can show up. And if both parents pass on mutated genes, it can create a number of genetic issues.
The two most problematic and most studied mutations are known as C677T and A1298C, which refers to the placement of the mutation on the gene. The most common MTHFR gene mutations involve combinations of these two genes that are passed on from each parent:
- Homozygous: Occurs when the same gene is passed on from both parents, meaning both parents passed on either C677T or A1298C.
- Heterozygous: One parent passed on a healthy normal gene, but the other parent passed on a mutated gene (either C677T or A1298C).
- Compound Heterozygous: One parent passed on C677T, and the other parent passed on A1298C.
While there are other more advanced and rarer mutations, as well as other factors that affect gene expression and methylation, these two mutations are the most common. Depending on the type of mutation and how that mutation is expressed, methylation and enzyme efficiency can vary greatly. Some individuals’ enzymes levels may only drop 10% where symptoms may not even be noticed, while others may experience severe MTHFR mutation symptoms when their levels drop as much as 90%.
What are the Signs and Symptoms of MTHFR Gene Mutation?
The type of symptoms and severity of an MTHFR gene mutation are heavily influenced by the type of mutation a person has, as well as by how much the body’s ability to carry out methylation and make MTHFR enzymes is impacted. The less MTHFR your body is able to produce, the more severe the MTHFR symptoms are likely to be. Some conditions that have been linked to MTHFR gene mutation include:3,4
- Autism
- Addictions: smoking, drugs, alcohol
- Down syndrome
- Frequent miscarriages
- Male and female infertility
- Pulmonary embolism and other blood clots
- Depression and anxiety
- Schizophrenia
- Bipolar disorder
- Fibromyalgia
- Chronic fatigue syndrome
- Chemical sensitivity
- Parkinson’s disease
- Irritable bowel syndrome
- Stroke
- Spina bifida
- Migraines
- Hyperhomocysteinemia
- Breast cancer
- Atherosclerosis
- Alzheimer’s
- Multiple sclerosis
- Myocardial infarction (heart attack)
- Methotrexate toxicity
- Nitrous oxide toxicity
- Autoimmunity
- Gastrointestinal issues
How Do I Know If I Have an MTHFR Gene Mutation?
While an MTHFR gene mutation can manifest in a number of different ways, the only way to know for sure if you have the mutation is to verify your genes through a blood or saliva test. If you are concerned that you may have an MTHFR gene mutation, there are a couple of options when it comes to genetic testing.
Ask Your Doctor:
You may be able to ask your physician to order an MTHFR gene mutation testing through True Health Labs. It is important to keep in mind that not all doctors are well-versed in MTHFR issues. For this reason, it may be a good idea to seek out a functional medicine practitioner or another healthcare professional that has experience treating patients with MTHFR gene mutations.
23andMe:
23andMe is a genomics and biotechnology company on a mission to revolutionize health, wellness, and research. Through 23andMe, you can order a genetic profile directly without a physician order online for only $99. We’ve come a long way in genetic testing, making it more accessible to many people.
It is important to note that 23andMe’s genetic profile will give you all of the raw data you need to identify an MTHFR gene mutation, but they no longer offer health-related genetic reports. You can take this “raw data” and run it through a program that will interpret it for you, such as:
Natural MTHFR Treatments and Diet
Avoid Drugs That Deplete or Block Absorption of Folate or B-12:
Because one of MTHFR’s most important roles is to convert B vitamins into their active usable form, medications that impede the absorption of B vitamins can exacerbate MTHFR gene mutation. Avoid some medications that have been found to worsen MTHFR gene mutation by either depleting or blocking absorption of certain B vitamins, such as folate and vitamin B-12, include:5
- Birth control pills
- Methotrexate
- Proton pump inhibitors
- Antacids
- Cholesterol binding drugs
- Metformin
1. Avoid Taking Things With Folic Acid
Folic acid is the inactivated form of folate (one of the B vitamins). In order to be converted into an active usable form by the body, it must undergo methylation. Ingesting high levels of folic acid can be toxic for those with MTHFR gene mutation.
2. Avoid Eating Processed Foods
Many processed foods contain added synthetic folic acid that the body cannot process properly.
3. Load up on Leafy Greens
Leafy greens, such as spinach, kale, swiss chard or arugula, are loaded with natural methylated forms of folate that your body can more easily process.
4. Avoid Exposure to Environmental Toxins
Minimizing your toxic load is important since MTHFR gene mutation hinders your body’s ability to detox. It is impossible to entirely avoid toxins, but some ways to minimize exposure include:
- Remove any mercury amalgams with a trained biological dentist
- Avoid aluminum exposure in antiperspirants or cookware
- Avoid heavy metal exposure
- Use natural cleaning products
- Use natural beauty products
- Drink high-quality filtered water
- Invest in an air purifier
5. Eat Grass-Fed and Organic Animal Products
The quality and nutritional profile of meat and other animal products drastically change depending on the diet of the animal. Toxins that animals are exposed to can be passed onto you when they end up on your dinner plate. Opt for grass-fed and organic options when possible.
6. Take Your Vitamins
Since an MTHFR gene mutation hinders your body’s ability to properly convert essential nutrients, taking high-quality supplements can help counteract these effects. A good place to start is by taking the following MTHFR supplements:
- Methyl B12
- L-methylfolate
- Trimethylglycine (TMG)
- N-acetyl cysteine (NAC)
- Riboflavin
- Curcumin
- Fish oil
- Vitamins C, D, and E
- Probiotics
It’s important to note that if you are double homozygous for MTHFR mutations, you should proceed very cautiously with methyl B12 and L-methylfolate supplementation as some people do not tolerate high doses. A good rule of thumb is to Introduce nutrients one by one and watch for any adverse reactions. Use extreme caution when supplementing with niacin, which can dampen methylation.
7. Take Time to Detox
Since an MTHFR gene mutation impairs your body’s ability to get rid of toxins, support your body in this process by incorporating gentle detox regimens several times per week. This could include:
- Infrared sauna
- Epsom salt baths
- Dry skin brushing
- Regular exercise or sweating
8. Focus on Gut Health
When your body’s ability to use certain nutrients is impaired, it is especially important to focus on gut health so your body can absorb the nutrients from food as effectively as possible. For digestive support, click here to learn more about my histamine blocker.
9. Share the Information with Family
If you have a known genetic mutation, share the information with parents, children, and other family members and encourage them to be tested too! The easiest way is to order through 23andMe for only $99 online.
Next Steps If You Have MTHFR Gene Mutation Symptoms
It is important to remember that having an MTHFR gene mutation does not necessarily cause disease, but it does make you more susceptible because it impedes your body’s ability to function properly. This is excellent news because it means YOU have the power to influence your own health.
If you have tested positive for an MTHFR gene mutation, it is vital to be proactive and take steps to minimize its impact, and the tips outlined in this article are a good place to start. From air purifiers to grass-fed beef delivered straight to your door, we’ve rounded up our favorite products and companies that can help you follow these tips and manage your MTHFR gene mutation. Check out the products we recommend here.
It’s also important to note that MTHFR gene mutation is a complex and very individualized condition. Working with a practitioner well-versed in treating patients with MTHFR gene mutations can help you navigate these complexities and develop a personalized plan of care.
Here is some additional reading I recommend if you’ve been diagnosed with MTHFR gene mutation:
Is Undermethylation Keeping You Down? What You Can Do
How to Choose a Good Integrative and Functional Medicine Doctor
What is Your Total Toxic Burden? How To Reduce It For Better Health
4 Detox Methods That Actually Work
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Has there ever been a time in your life when you’ve felt alone or unsure where to turn for answers?
In Unexpected: Finding Resilience through Functional Medicine, Science, and Faith, Dr. Jill Carnahan shares her story of facing life-altering illness, fighting for her health, and overcoming sickness using both science and faith so that others can learn to live their own transformative stories.
Dr. Jill’s riveting and compassionate exploration of healing through functional medicine demonstrates how to replace darkness and fear with hope and find profound healing, unconditional love, and unexpected miracles in the process.
References
- https://ghr.nlm.nih.gov/gene/MTHFR
- https://www.ncbi.nlm.nih.gov/books/NBK66131/
- https://www.ncbi.nlm.nih.gov/pubmed/25449138
- http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/
- https://livermedic.com/mthfr-what-to-avoid/
419 Comments
Dear Dr.Jill
I was wondering- How hos does methylphenidat-hydrochlorid(Ritaline) effect histaminlevel in the body?
Does it increase or decrease histamine?
Same question goes for Betaine HCL- Increase or decrease histaminlevel?
Thank you for your great knowledge
Henriette
Retalin is a stimulant. kids who used Retalin may be Celiac which causes ADD/ADHD and more. Allergies can be due to leaky gut due to gluten/GMO/antbiotics and more hurting the gut lining. Vit C may lower histamine/allergy reactions. HCl and Retalin may not affect histamine, but the Celiac diet may help histamine issues. Below may heal leaky gut and help allergies/ADD etc. Best wishes.
No gluten/dairy/soy/sugar/GMO and vitamins/good oils, LDN and detoxing help me help my brain/body/depression. Gluten is wheat/barley/rye..oats may act like gluten with avenin. GMO corn/soy/canola oil may hurt. Amour thyroid maybe needed since gluten may made antibodies to the thyroid.
Sunlight (helps the immune system and helps to heal the gut lining),exercise, organic food, good water..not tap water, cooking by scratch pure food, no food in a box/bag/premade/label/restaurant which may help avoid hidden gluten. Nuts not sold in the shell/meat basting/some spices may have hidden gluten and lotion/make up etc. One restaurant cooks special for me…rice/veg/tea/extra mushrooms (no meat since the woks may have MSG/gluten in them).
EDTA/DMPS IV chelations from an Alternative doctor, 600mg of cilantro, zeolites, organic sulfur, Now brand- Detox support and more may help detox. Hair tests show good minerals and heavy metals. Heavy metals can block thyroid and other chemical reactions in the body/brain.
LDN may help block hidden gluten, but the Celiac diet is still needed. 100% no gluten may help.
Dear Jill,
I have followed your blogs and talks for a while.
I have done my 23 and me tests over a year so ago and have been slow to make sense from the data.
I wonder if you could help with the MTHFR
I am GG on C677T
GT on A1298C
I have biletaral mastectomy in 2008 ER(+) PR (+), age 51, was on tamoxifen for 3 and 1/2 years and stopped due to polyps which I was told were likely induced by Tamoxifen. There were no nodes involved but they took 6 nodes on the right and 2 on the left. I had subarecanoind bleeding in 2000- no further actions but at the time nearly had brain surgery. Have elevated homocysteine which at around 15 or so which I keep down with TMG and or B complex or Methyl Guard by Torne. Have long history of migraines, anxiety and depression. My only sister was Dx with inflammatory breast cancer and died age 47 after one year of her Dx. She had Her3 triple positive. My mothers sister died also from Br. Cancer age 50. I now have borer line osteoporosis told due to tamoxifen, elevated total cholesterol at 5,9-6,7 mol/L or 227,8-258 mg/dL, elevated LDL at 3.74 or 144,4 mg/dL, but normal triglycerides o.5 mol/L or 44 mg/dL
and HDL at 1.93 mol/L or 74.52 mg/dL. My CRP is normal. My TSH is all over the place and sometimes is 0.2 and varies to 3.25. Have falling hair but GP tells me all is OK as the antibodies are “normal”. I have bulging disk at L4L5, tendonitis, acetabular displaycia in both hips- lots of pain in neck and shoulders. Having lost my sister in 2009 and my mother in 2012.
Can you please help with the 23 and me data on MHTFR?
Any advice on supplements? I had just removed my 12 amalgams and doing all I can to detox. Still have two root canals to deal with so any advice on this would be greatly appreciated.
Hi Penka,
This is complex and treatment must be individualized. I suggest finding a functional medicine doctor in your area to help you…. search by zip code http://www.functionalmedicine.org.
Best to you!
Dr Jill
Hi Dr. Jill,
Thank you for this information.
It is incredible how many doctors I have seen yet none have mentioned this.
The problem I have is excess Vitamin B12 (1450) yet I have symptoms of being deficient. Also, I am not using a Vitamin B13 supplement, yet my levels keep rising.
What are your thoughts on this please?
Thank you,
Katrina
Hi Dr. Jill,
I have a couple questions and am looking for advise.
I recently found out I am heterozygous A1289C. I am currently trying to conceive a baby. I have had three miscarriages and one healthy pregnancy. About a month ago I started taking 1000 mcg of methyl folate and 500 mcg of B12. My ob doctor said I should take 2000 mcg of methyl folate. About a week ago I upped my methyl folate dose to 2000 mcg. I am terrible sore. My musles ache in my back and neck. My neck hurts so bad that I can barely move it. I have been very moody at times and a little brain fog. Yesterday I went and got a turmeric supplement to hopefully help with my side effects. I am desperately looking for advise on what and how much I should be taking in supplements for my mthfr mutation. Is there anything else I should be taking? Also my next cycle we are planning on starting Clomid. should I be worried about reacting negatively to Clomid? I have taken it before and didn’t notice anything terribly aweful.
One more thing…I have a couple things that I have always wondered about myself and am now wondering if they are related to my mthfr mutation.
1) I had constant rashes as a child. Everything gave me a rash! Every sickness was acompanied by a rash.
2) Starting about age 12 I started getting feelings of my heart racing. I was told I would grow out of it but I never have. I continue to have that feeling of palpitations weekly.
3) I have a Stills heart murmur as well as an incomplete right bundle branch block in my heart.
4) I have had a very hard time getting and staying pregnant. I recently had my amh and fsh levels tested. My amh is extremely low at .18 and my fsh is elevated at 14. I am 33 years old and am told that I have severely diminished ovarian reserve. My reproductive specialist put my reproductive age at age 42!
5) The past few months I have had a couple very dizzy/ almost fainting episodes. My doctor said that it is just vesovagal responce and nothing to worry about. ??????????
6) I have horrible night terrors as a child!
I was wondering about the 23andme DNA genetic tests. I saw you mention it a couple times. I am confused though…do they still offer the health portion of it and if so how do I read it? I am interested in finding out more about my other genes. My mom recently found out she has type 2 diabetes. I am shocked because she has always eaten very healthy and lived a healthy lifestyle. We never had sweets or junk food in the house. I guess if she did anything wrong it was eating too much fruit.
Thank you! I look forward to your response.
Hi Emily,
As you might imagine, I cannot legally do medical consults on the blog site. Why don’t you call my office to schedule an appointment or search for a functional medicine doctor in your area to consult with. I wish you the very best on your healing journey!
warmly
Dr Jill
Hi Dr Jill,
I understand you can’t do medical consults on your blog. I just thought I saw on your old blog comments where you were giving people advise on how to treat their mthfr.
Unfortunately I live in California so I will not be able to make an appointment with you.
Thank you.
Emily, your nausea and dizzyness is because your B6 levels are too low. Your body has a hard time processing phosphorus chemicals so your B6 levels get too low. (B6 is a phosphorus chemical), and you need B6 to process other phosphorus chemicals. In fact consuming other foods etc that are high in phosphorus will make it harder to get B6 in. So you need to go on a very low phosphorus diet except for very lean beef or buffalo (put organic olive or coconut oil on it with a little mineral salt to make it more palatable).
The only starch you should eat right now is potatoes (all other starches are too high in phosphorus). Steam organic potatoes and put organic olive or coconut oil on them. Potatoes are very low in phosphorus and high in B6. Eat organic romaine lettuce and oranges and orange juice which are all high in folate.
Avoid high phosphorus foods like coffee, black tea, green tea, all sodas including seltzer and sparkling water, legumes (beans peas lentils peanuts, soy and soy sauce) Avoid yams, they too are high in phosphorus. Avoid all high oxalic acid foods like kale and spinach. Oxalic acid depletes B6.
You want to get your B6 levels up, but your body probably will not be ok with supplementing, so you have to get your B6 levels up by not using up the B6 you already have and so that means avoiding high phosphorus foods, not waiting too long to eat, avoiding butter and other long chain saturated fatty acids which use up B6 to be metabolized.
I know this stuff by figuring it out from personal experience. It is a sparse diet to be sure, but it is fairly delicious and it will stop your dizzyness and brain fog, pain and other symptoms.
If you are going to have another child, I would suggest a genetic counselor and in vitro fertilization so a good egg can be picked out that doesn’t have significant mutations. You want to have a child who will not have to suffer with this. Life is too hard already for everyone, that you need to do all you can to have as healthy a child as possible, so take into consideration, their life too and make sure that they don’t inherit any heavy duty mutations. We have the knowledge about this now, so its the least you can do out of concern for your progeny. Good luck.
Can red light therapy be helpful in detoxing or is it only infrared sauna due to the sweating? I am heat intolerant have pots. So I think if it also works red light therapy would be better for me?
yes, red light may have some detox capacity but will not penetrate as deeply as far infrared
Too much methylfolate is bad too. There are a million of these genes and they all work together. MTHFR isn’t the ‘only’ one that matters.
Agree, Dianne! There are no “protocols”
Doctor hello doctor Jill I was wondering if my MTHFR will be affected with the Coronavirus both my parents were carriers and are my siblings thank you.
Hi Kathy
Methylation affects many processes in the body but there is not a direct link to worsening infection
warmly
Dr Jill
Hi Dr. Jill,
Thank you for this information.
It is incredible how many doctors I have seen yet none have mentioned this.
The problem I have is excess Vitamin B12 (1450) yet I have symptoms of being deficient. Also, I am not using a Vitamin B13 supplement, yet my levels keep rising.
What are your thoughts on this please?
Thank you,
Katrina
Dear Dr Jill , first I enjoyed your talk at the Thyroid summit
I do have Hashi and also have a Methylation defect my doc put me on Methyl protect and S-Acetyl Gluthianone , is this the same procedure you would follow
I treat patients with personalized medicine so there are no one-size fits all protocols and it depends on individual history and lab results.
Emily Riley,
I am homozygous A1298C. A1298C is in the regulatory portion of the gene and has different impacts than the C677T mutation. A1298C doesn’t impact folate metabolism the way C677T does, and a heterozygous A1298C mutation may have only minimal impact. Your current muscle aches and moodiness could well be due to too high a dose of methyl folate. If they are due to the increased methyl folate, taking niacin will counter those effects. MTHFR.net has a lot of information about this.
23andMe is still offering the same genomic test. What has changed is the FDA is currently prohibiting them from offering the health reports, the interpretation part, to new customers. You can download the genetic data from 23andMe to a service that will interpret it for you, such as GeneticGenie, MTHFRSupport Variant Report, or LIvewello.
Hi Lynn,
Thank you for the information. I was kind of thinking 2000 may have been too high of a dosage but wasn’t sure. I will have to look into 23andme and the sites that interpret your results.
Thanks!
There is a dearth off information about the 1298 mutation compared to the 677. (I am also homozygous for the 1298.)
Are there any sites / reading you can recommend which are specific to the 1298 mutation?
Thanks!
yes, you might try https://seekinghealth.org
Hi Jill. I just listened to your presentation for the Thyroid Summit and as a result have signed up for your newsletter. I am also interested in MTHFR but was surprised when read on your website to reduce methionine intake. My doctor has me on high doses of methionine due to undermethylation, based on Dr William Walsh’s studies. I would love to come and see you but do not live in the USA. Should I be qustioning this approach? Many Thanks
Hi Samantha, you are correct. The body doesn’t use methionine as a supplement well so I generally do not recommend it.
Am a functional med physician who loves your amazing blog – thank you! Wondering if you have a handy list of references of the importance of MTHFR testing. Much appreciated!
Hi Dr Jill,
Is there a list of foods/drinks that should be avoided? I’ve heard caffeine and teas such as green tea and coffee even if decaffeinated, should be avoided. Is this correct?
Hi Meghan – It’s all individualized based on the patient and other medical issues present. The genetic SNPs don’t determine which diet someone should be on, although persons with COMT +/+ should avoid eating/drinking too many catechols, like in green tea and coffee.
warmly
Dr Jill
is night terrors a part of MTHFR in children
No not commonly
I have MTHFR 677 and 1298 mutations. As a child i had night terrors and sleep walking/talking- as an adult really bad insomina. Not sure how much is related of my nighttime problem and the MTHFR mutation.
Hi Kimberly,
There could certainly be some connection as I frequently see anxiety in patients with double heterozygous mutations…
warmly
Dr Jill
Hi, Bad dreams/lack of sleep maybe due to low oxygen in the brain. Vit B12 methycobalamin shot helps me sleep better. Celiac may hurt brain/body. No gluten/dairy/soy/sugar/GMO…vitamins/good oils, LDN, detoxing may help brain/body. See my above comments about what I do for my Celiac. Best wishes.
Night terrors/anxiety/etc. could also be due to another genetic mutation known as Pyroluria. Supplementing with the vitamins and nutrients one is deficient in will help those issues.
My daughter had years of night terrors. I thought she was being oppressed for a time they were so bad. They went 100% away when we RIGIDLY avoided gluten. If she is accidentally glutneed it will react its ugly head …but just for the night.
Very interesting, Kelley but due to the neurologic affect of gluten on the brain I am not surprised…
my brother-in -law with MTHFR had night terrors as a child.
Dr. Jill,
I was diagnosed with the MTHFR C677T homozygous. I’m totally new to this and still trying to figure out what it all means. Prior to be diagnosed, I had in 12/13, I had an ectopic pregancy causing me to lose one tube. In 3/14, I miscarried at 4 weeks, in 7/14 I miscarried at 3 months. Prior to knowing any of this, I had a healthy pregnancy 3 years with no complications. I spoke with my OBGYN and Hematologist and have been advised about going on Lovenox, baby asprin, and folate asprin prior to becoming pregnant. We have another meeting with the hematologist today to discuss the next step and I’m unsure of what questions to ask. Any advice? Thank you.
Hi Wendi – just saw your message and replied on FACEBOOK 😉
Hi Wendi – just saw your message and replied on Facebook 😉
Hi Dr. Jill, I am homozygous for the mthfr deficiency. We have been trying to conceive with no luck for 4 years. My reproductive endocrinoligist has prescribed FABB tabs which are 2.2 mg folic, 25 mg b6 and 1 mg b12. But these are the synthetic forms of these b vitamins and everything I’ve read says that mthfr people can’t absorb these vitamins and need the”methyl” versions of them. So I went to a vitamin store and bought methylcobalamin&5-methlyteyrahydrofolate. My question is, do I take the same dosages as those which we’re in the synthetic tabs, or do I reduce the dose since my body will be able to use them correctly? My dr. Does not seem to think there is a difference between the effectiveness of the 2, but how can every single thing I’ve read be saying something different? Who’s right, my dr. or the internet? Thanks.
Hi Emily,
You are correct that the active forms may work better for you. Do you have C677T or A1298C +/+? Some people require both folinic acid and 5MTHF. I suggest starting low and increasing slowly as tolerated with the methylB12 first. Talk to your doctor before making any changes.
warmly
Dr Jill
Hi Dr. Jill.
I have been diagnosed with the heterogenous MTHFR gene mutation. My Dr. started supplementing me with methylcobalamine (5,000) tablet that also had folic acid in it. For the first couple of months I had no side effects but then I started getting gastrointestinal symptoms so I cut out then eliminated the B12. After a couple of weeks I started feeling severely depressed. I tried some lower doses of methylcobalamine but they started making me feel very jittery and anxious. Then a psychiatrist recommended I take Vessel Care. I felt better on a tiny dose but it gave me insomnia and some jitters. I stopped taking and immediately crashed back into body pain and depression. My Dr. is now asking me to take TMG since I am so sensitive to the methylated supplements. Do you have any thoughts on this. I am just desperate to become stable again and happy.
Hi Liz,
Many patients do not tolerate the methyl-B12 and methyl-folate and it’s not just the MTHFR gene mutations that come in to play but also COMT, CBS, and many others. It’s quite a mosaic to figure out how each person will respond but I suspect based on your symptoms that you may also have a COMT SNP and thus not tolerate methyl-donors well. I suggest trying a low dose active B vitamin, like Prothera Active B which you can order online using my physician code = 618. I generally don’t like Vessel Care and many patients are intolerant to it. If you continue having trouble, seek a functional medicine doc in your area to consult with.
Blessings
Dr Jill
It depends on the person’s Cu/Zinc balance. Hair tests may show minerals and heavy metals. Heavy metals may block chemical reactions. Low minerals absorbed can be due to Celiac. Tests may not work to diagnose Celiac. Celiac help may help the brain/body work right. See my other comments. Best wishes.
I have been diagnosed with the MTHFR – homozygote mutation after 3 misc.in march 2014 and have been prescribed high dose of folic acid , + heparin and aspirin if we pregnant…
Had two more misc. one in july 14 and one in sept. 14 …came across so many updates and news about not taking folic acid especially with MTHFR .
I must say I did not feel any better with high dose of folic acid decided to stop taking it (had terrible headache, mood swing , weight was just going up and feeling very depressed ) and start taking L-5-MTHF Lozenge – 1,000 mcg – + basic prenatal ( very good review from ladies with mthfr )…
I am happy to hear any coments you have.
I live in London -uk and I find it difficult to come accross some specialist who deals with MTHFR.
Thank you
Hi Ika staf,
thank you for your kind words and I am so happy you are feeling better!
Dr Jill
HI, I take 1mg of MTHF. UK people…low sunlight/far from the equator…can be Celiac which lowers nutrients absorbed. Celiac help may help a person get pregnant. Gluten may make antibodies to the thyroid…Amour thyroid may be needed. I only got blood clots when my thyroid was low…didn’t need Heparin then and aspirin. Too high a dose of B vitamins may cause headaches. Below is what I do for my Celiac. Best wishes.
No gluten/dairy/soy/sugar/GMO and vitamins/good oils, LDN and detoxing help me help my brain/body/depression. Vit D3, zinc, fish oil, evening primrose oil. lecithin, krill oil, coenzyme Q10, rhodiola, magnesium, Vit C, Biotin, HCl and enzymes with meals, dairy free probiotic, Vit B12 methylcobalamin shot/spray/under the tongue kind/intrinsic factor kind, MTHF folate, coenyzme Q10, rhodiola, may help brain/body/depression and more health issues. Gluten is wheat/barley/rye..oats may act like gluten with avenin. GMO corn/soy/canola oil may hurt. Amour thyroid maybe needed since gluten may made antibodies to the thyroid.
Sunlight (helps the immune system and helps to heal the gut lining),exercise, organic food, good water..not tap water, cooking by scratch pure food, no food in a box/bag/premade/label/restaurant which may help avoid hidden gluten. Nuts not sold in the shell/meat basting/some spices may have hidden gluten and lotion/make up etc. One restaurant cooks special for me…rice/veg/tea/extra mushrooms (no meat since the woks may have MSG/gluten in them).
EDTA/DMPS IV chelations from an Alternative doctor, 600mg of cilantro, zeolites, organic sulfur, Now brand- Detox support and more may help detox. Hair tests show good minerals and heavy metals. Heavy metals can block thyroid and other chemical reactions in the body/brain.
LDN may help block hidden gluten, but the Celiac diet is still needed. 100% no gluten may help.
Hi Dr. Jill,
I just found out that I am homozygous for the MTHFR C677T and I was wondering if this could be the cause for my systemic itching for the past 3 years? I’ve seen 3 dermatologists and 2 colorectal doctors because of the itching and rashes on my body and my bottom and they could only tell me that I had eczema and that I needed topical steroids. I am someone who believes in holistic medicine and I believe that my body has been trying to detox but these doctors look at me like I am crazy and don’t understand my fear of topical steroids or oral steroids. I’ve seen too many cases of topical steroid withdrawal on the internet and wonder if these people started out just like me and have the same mutation and not eczema. So, do you feel that my itching is related to my mutation? And if so, what do you recommend that I take?
Hi Lisa,
Many patients with poor methylation have trouble clearing histamine, so yes, there could be a connection to your chronic rashes and itching… but there is always more than just genetics at play and may be related to immune dysfunction or infection as well.
warmly
Dr Jill
Hi, Steriods can hurt the liver. Itching can be due to gluten which can make eczema and much more. Allergies may cause itching also. Gluten may cause leaky gut and food allergies. I agree people low in methylation may not detox well in the liver so histamine and more may stay around longer. Vit C and quercetin may help lower histamine. No gluten/dairy/soy/sugar/GMO…vitamins/good oils, LDN, detoxing may help. See my other comments about what I did for Celiac help. Tests may not work to diagnose Celiac, but getting that help may heal many health issues of brain/body fast. Best wishes.
Hi Dr. Jill,
Thank you for your quick reply. How do you think that I should proceed at this point? What can I do to help to clear the histamine? I am already presently taking methyl B12 with folate, methyl B6, NAC, Vitamin D3, Hepatica V8, an omega and a probiotic. My skin has been calm for a while and it just started acting up again so I’m wondering if there is something else that I should be taking or should I be increasing my dosages? I would really love your guidance with my case but I live in Florida so paying you a visit is not an option. Do you do phone consults and if so, would it be helpful in my case or can you recommend someone who is as knowledgable as you with this mutation in South Florida? I really want to get to the bottom of this and put an end to it so that I can have a better quality of life.
Warmest regards,
Lisa
Hi, Vit C, quercetin may help lower histamine. Eating gluten may cause food allergies due to leaky gut and may cause skin issues and much more. See my other comments about what I do for Celiac. Best wishes.
I live in South Florida also and was wondering if you’ve found a doctor in the area or one who would do phone/Skype consults? Thanks
Hi Jennifer
Try searching by zip code at http://www.functionalmedicine.org
warmly
Dr Jill
Hi Dr. Jill,
In your opinion do feel there is a link between the MTHFR gene mutation and Non-alcoholic fatty liver disease (NAFLD), Non-alcoholic steatohepatitis (NASH), and liver disease in general? If so, do you feel that a person who is homozygous for the C677T MTHFR Mutation may be able to reverse NAFLD or NASH by taking active folate like L-5-MTHF Capsules? And I understand you cant actually give medical advice over the internet, and am just asking if you are able to share your opinion on this. Thanks!
Hi Desiree,
MTHFR is a cellular pathway for methylation that can affect any organ that involves DNA repair, detoxification, biotranformation, and repair. So yes, it could affect the liver but I would not suggest that there is a direct correlation with MTHFR and NASH or NAFLD. For either of these conditions, I would start with eliminating or decreasing fructose consumption.
warmly
Dr. Jill
Thank you Dr. Jill!
What is a person has already drastically reduced fructose (and sugar and flours/grains) in the diet and has been strict for over a year but is still having issues and a recent abdominal ultrasound says there is still NAFLD/NASH–and it’s been this way for 7 years? Gluten/flours/grains free, soy free, casein free, black-carbon filtered well water, heavy metal toxicity chelating (2 6-hr provoked urine tests taken, excreting large amounts of heavy metals), now have bloated tummy, some pain; abdominal and pelvic ultrasound came back 100% fine for everything but “liver is mildly heterogeneous without evidence of biliary dilatation or focal lesions.” What would the “direct correlation” between MTHFR and NASH or NAFLD? WHAT do I look for? My grandma had liver cancer and died from liver cancer; she also had Alzheimer’s disease and probably had MTHFR, since she had severe varicose veins as well as one of her children was born with severe spina bifida (died). I am at my wit’s end, trying to find this linking/missing piece. Thank you!
I do have high homocycsteine at 10.6 umol.L, I am a 47-year-old female. Just discovered I have MTHFR in 2015 and became sick in 2008, which my body collapsed on me. Been working on regaining my health ever since.
The liver is often overloaded from endotoxemia which is a gut issue. Have your functional medicine doctor test you for SIBO or other bacterial dysbiosis.
Hi, Yes…fructose/fruit sugar may go straight to fat and not energy..may affect the liver. Lecithin may defat the liver. Celiac may make the liver not work well or detox well. Detox Support, alpha lipoic acid, milk thistle, Vit C, glutathione, LDN (helps to block hidden gluten) and more may help the liver. See my other comments…about what I do for my Celiac. Best wishes.
Great article, thank you Dr. Jill. This is a bit easier for me to take in than Dr. Lynch’s protocol. I believe I have other mutations than just the Hetero for C677T but I didn’t get our genetic testing ordered before the FDA shut down the 23andMe results from being released so I need to look into other ways to get this information. I attempted the methylfolate/B12 protocol and even at an extremely low dose I had extreme side effects and reaction so I know something else is at play. I’m pregnant now and need to explore my other options for getting the supplementation I need! Hoping that I am able to book an appointment with you at some point as we just moved to CO. I look forward to following your work & blog and am hopeful I’ll get my body what it needs to treat the mutation for me and baby.
Sounds great, Erin! I would love to see you! Please do call if you are interested in scheduling as we currently have a wait list.
I hope I get to meet you!
warmly
Dr Jill
Dr. Jill – I tested homozygous for c677, but my homostyceine came back normal (10.4) and folate is normal (10.2) and b6 is normal, too (14.8). B12 is high. Does a person in a situation like this normally need to worry about folate/b supplementaion (i.e., could the normal homostyceine level indicate that the mutation is not expressing itself)? Thanks for all you do! Paul
Hi Paul, not necessarily… the key is to treat the patient (you) and not the SNP.
warmly
Dr Jill
Hi Dr. Jill,
I’m glad I came across your website. There is some great info here and thank you for being so generous with your time and expertise! I had a question that maybe you would be able to help me with. I did the 23andme testing as well as Genomind testing with a doctor some time ago and was able to determine that I had an MTHFR mutation. After trying deplin and having side effects including elevated anxiety I decided to stop the medicine. Since then I’ve come to find out that I have chronic lyme disease including several of its coinfections. The research seems to indicate that addressing any methlyation issues is a very important component of detoxing correctly and getting rid of the bugs/coinfections and helping to reduce symptoms. However, like a lot of people above, I seem to have side effects when I try to attack the methlyation issue with supplements like methyl folate and methyl B12. I’m taking anti parasitic, anti fungals, etc to help with the Lyme, etc but I feel like if I can figure out the right donors that I may be missing or the right forms of supplements to address the MTHFR issue it will have a drastic impact on my recovery and potential for symptom relief which I’ve been dying for. I was wondering if you have any advice as far as how a methlyation issue should be targeted within the context of a larger Lyme protocol and I was just wondering if I threw out a few mutations per my 23andme test below if maybe you could take a quick look and let me know if there is anything in particular that may be beneficial to include? Any help would be immensely appreciated!! Thanks!!
– Phil
CYP1B1 L432V +-
CYP1B1 N453S +-
CYP2C19*17 +-
GSTP I105V ++
IFIH1 (HLA) +-
HLA +-
CBS A13637G +-
MTHFR A1298C +-
MTHFR C677T +-
Hi Phil,
I am sorry to hear of your health struggles! Issues like yours can be complex and multi-factorial. As you might imagine, I cannot do medical consulting on the blog but I suggest you contact a functional doctor in your area to help you on your healing journey. There is no one size fits and and I advocate an individual approach based on your symptoms and diagnosis and not just on SNPs. I rarely treat or advice simple based on SNP data but look at lab testing like organic acids, serum labs, stool testing, hormones and nutritional information, etc. If you’d like to schedule a consultation, please contact the office.
blessings and best wishes on your healing journey!
Dr Jill
Thank you very much for the response, Dr. Jill.
I figured that may be the case but figured I’d check anyway. It’s rare where you can find a doctor who’s willing to share their expertise in a forum like this. Colorado is lucky to have you out there for sure! I totally understand what you’re saying and I’m coming to understand how complex and interrelated this all really is. I actually just started working with a functional doctor here in Maryland after seeing a couple other doctors with no noticeable improvement. I just had my second appointment with him today and he seems to be on the same page as you. While the other doctors wanted to attack the Lyme head on which was making me feel much much worse, he’s starting at what seems to be a few levels before that and focusing on me as a person. Focusing on inflammation first and my diet as well as supplementing with a good multi (photo-multi), methyl guard plus by Thorne and rounding out with a spectrum of fatty acids in addition to some other supplements. Like you, he stressed how complex the whole system is and the fact that it’s not really about the Lyme specifically. Thinks the immune system became suppressed at some point along the way and it gave a lot of these dormant viruses and other things the chance to proliferate (Lyme, Epstein Barr, etc). Goal is to turn the immune system back on. While those viruses may always be there at least they’ll be held in check and I should see some drastic improvements in my health. Gosh I hope so… this is all soooooo very annoying! Anyway, I’m fighting the good fight and if I hit a wall again I’ll remember about Dr. Jill in Boulder, Colorado! 🙂
Thanks again for your time.
Phil
Hi Phil,
Wow – so glad you found a good functional medicine doc in your area – I agree supporting detox, decreasing inflammation, addressing nutritional deficiencies is most important before attacking or treating infection. Don’t be discouraged if progress is slow… you’ll still have ups and downs but you should look back in 6-12 months and realize how much progress you’ve made 🙂 Personally, I’m 13 years out from cancer and crohn’s disease and still have my ups and downs but overall a million times better than I used to be. I certainly wish you the very best in healing and I’ll try to keep writing helpful articles for you and all of the others with chronic illness.
Warmly
Dr Jill
Hi Phil,
Could you please share which Functional Medicine doctor you have found in the Maryland area? Thank you.
Hi Phil,
I live in Maryland and I’m wondering who your functional physician is? I was just diagnosed today with the heterozygous C677T variant. I hope you are doing better since your post.
Thank you!
Stacey
HI, I currently have Lyme, but figured out my health before I got the Lyme. I need Celiac help…no gluten/dairy/soy/sugar/GMO…vitamins/good oils, LDN, detoxing. LDN is awesome. LDN helps block hidden gluten and helps the immune system and helps heal the gut lining.
This is what I do for Celiac. Celiac can lower the immune system so Lyme is easier to catch and hard to get rid of. Fixing the Celiac first may help get rid of the Lyme and coinfections. I also have Epstein bar in me.
No gluten/dairy/soy/sugar/GMO and vitamins/good oils, LDN and detoxing help me. Vit D3 5000IU, zinc 50mg, fish oil 2000mg, 20000mg of evening primrose oil. 2000mg of lecithin, krill oil, coenzyme Q10, rhodiola, Mg citrate 4000mg, Vit C, 5000mcg of biotin, Nature’s Plus- Source of life multiple, HCl and enzymes with meals, dairy free probiotic, Vit B12 methylcobalamin shot/spray/under the tongue kind/intrinsic factor kind, MTHF folate, coenyzme Q10, rhodiola, may help brain/body/depression and more health issues. Gluten is wheat/barley/rye..oats may act like gluten with avenin. GMO corn/soy/canola oil may hurt. Amour thyroid maybe needed since gluten may made antibodies to the thyroid.
Sunlight (helps the immune system and helps to heal the gut lining),exercise, organic food, good water..not tap water, cooking by scratch pure food, no food in a box/bag/premade/label/restaurant which may help avoid hidden gluten. Nuts not sold in the shell/meat basting/some spices may have hidden gluten and lotion/make up etc. One restaurant cooks special for me…rice/veg/tea/extra mushrooms (no meat since the woks may have MSG/gluten in them).
EDTA/DMPS IV chelations from an Alternative doctor, 600mg of cilantro, zeolites, organic sulfur, Now brand- Detox support and more may help detox. Hair tests show good minerals and heavy metals. Heavy metals can block thyroid and other chemical reactions in the body/brain.
LDN may help block hidden gluten, but the Celiac diet is still needed. 100% no gluten may help.
This is what I like for Lyme help so far: A L complex….Far Infrared Sauna…minocycline….Swimming in pool with Chlorine….exercise raises oxygen that bacteria don’t like…sunlight helps the immune system…..Garlic/oil of oregano….Banderol…..no gluten/dairy/soy/sugar/GMO…vitamins/good oils, LDN, detoxing. Gluten may lower thyroid and nutrients absorbed in intestines and lower the immune system. Getting Celiac help first may help the Lyme go away. Sugar may feed the Lyme/coinfections. Vit C IV and glutathione push may help. Amour thyroid maybe needed. Serrapeptase may also help eat up Lyme cysts…2 taken late at night…far from food may help. Best wishes.
I just found out that I have Homozygous A1298C. I am 14 weeks pregnant and was just told by my doctor that I need to start taking 5mg of Folic Acid when I have been only taking .8mg. I am a little concerned because I haven’t been taking enough Folic acid so far in this pregnancy. What the Homozygous A1298C gene impact? Is it the blood clotting? I am still learning all of this. Thank you for your help!
HI Jamie,
It’s very important that you don’t take any folic acid (synthetic) but instead folinic acid or methyl-folate or combination. You may tolerate the higher doses but I would proceed cautiously and not jump immediately to that dose.
warmly
Dr Jill
Hi Dr Jill,
I was recently diagnosed with MTHFR C667t homozygous along with Hashimotos and have a long history of depression. My vit D levels are low as well as all of my hormones. I have started bioidenticals, armour thyroid and wellbutrin without alot of relief. Im rather confused about COMT and if it is something i should be checking out.
Are there other labs should I be looking into as well?
I have been taking a multi, Vit C,D,E L-methylfolate and a B complex. I’ve grown tired of taking pills and still having constant dysthymia and low energy.
Also, I live in South Denver and would like to find a good integrated or functional medicine physician. Boulder is a bit too far. Do you have a few that come to mind that take insurance? I know you dont want to “recommend” someone per se, but suggestions are fine.
Thank you for any guidance you may provide. We are blessed to have you here.
Best regards,
Kathleen
Hi Kathleen,
Thank you so much for our comments… as you already know this can be very confusing to navigate. Food is the most important factor in health, even more than supplements, so the first this I suggest is an organic, non-processed, whole food diet devoid of gluten, corn, soy, dairy, egg, sugar, and alcohol. Many people do better off all grains but some can tolerate organic cooked quinoa and rice (not processed grains, like rice pasta or rice cakes) Be sure to get a ton of health fats as well and avoid all packaged or processed foods. If you are already eating clean, you may need further testing, such as urinary organic acids, hormones, thyroid, adrenal or stool profiles. I suggest searching online at http://www.functionalmedicine.org for someone nearby. You will not find many (any?) good functional medicine doctors who take insurance. It just doesn’t allow us to spend enough time with the patient.
warmly
Dr Jill
Hi Dr. Jill,
I have heterozygous MTHFR 1298 and I am almost 14 weeks pregnant with twins. I have been taking 5 mg folic acid and was on baby aspirin until I developed stomach pains and what appears to be gastritis. I was put on Zantac, but just discovered that its not recommended for MTHFR patients since the absorption of folic acid and B12 is poor. What should I do? The pain is bad enough that I cannot sleep at night, although the Zantac has been helping. I have been on a different low acid diet, but its not helping. There are a lot of natural remedies, but all pose risks during pregnancy (apple cider vinegar, baking soda, etc.) Could I just increase my supplementation dosage or does the Zantac inhibit absorption of most of folate? Maybe I could take supplemental injections instead or continue with baby aspirin while on an acid inhibitor? Im just terrified of miscarrying. Any advice you have would be really appreciated!
Nicole
Hi Nicole,
If needed to heal the gastritis, proton pump inhibitors are Class B in pregnancy. Check with your doctor first before taking. It can inhibit absorption of B12 but most important to heal your gastritis first. You can also get folic acid from leafy greens which, of course, are safe during pregnancy.
warmly
Dr Jill
Hello Dr. Jill
My situation is quite complex but I am looking for a good md who could help my son now 20 years old non verbal with severe autism who was dx with one of the MTHFR mutations about 6 years ago and I was so stressed and confused I never pursued it further. My sons behavior became so out of control we ended up finding a safe residential school. He has eposides of self injury and we have looked into everything accept this mthfr mutation. Every md I ask about doesn’t know anything about it. Everytime I tried giving him b12, or b6 and certain foods he will engage in head banging/sib This is the last area I never really explored but I have no clue where to go in the Boston area. I also have to deal with his school who is quite traditional in their views and approaches to therapy. I did manage to get him a GF CF soy free diet low sugar I actually make a lot of his foods. He is not taking any medications except LDN for ulcerative colitis CLO, probotics and d3. Sorry to be so long winded. I have researched md’s but can’t find anyone who can help in the boston are who is a md. only alternative docs. I need an md to work with so the school I cannot do things on my own. Thanks for listening and I feel this is a big part of his problems for years and I need to leave no stone unturned. No one else will help him and his is more and more misunderstood. Catherine
Hi Catherine,
You might try Dr. Richard Chen (http://www.visionshealthcare.com) or Integrative functional medicine psychiatrist, Dr. Erich Goetzel (http://www.newpsychiatry.org) or Dr. Stephen Cabral, who is also GAPS certified, which is excellent for children like your son (Cabral Wellness Institute, 142 Berkeley St.3rd Floor, Boston MA 02116) I don’t know these practitioners personally but they are functional medicine trained. You can try searching yourself online at http://www.functionalmedicine.org. I sincerely with you the best!
warmly
Dr Jill
Hi, it is also important to note that self injury can indicate severe serotonin depletion which indicates severe B6 and/or Folate depletion. When the body gets injured, it forces release of serotonin. If the person is not producing enough serotonin for regular daily life, it can cause compulsions to self injure in order to force Serotonin release to help the brain get what it needs (Serotonin). So if you can keep an individuals B6 and Folate levels up, you will have less self injuring behavior.
Many people with these mutations have difficulty absorbing B6, Folate (and B12 etc), so there is a deficiency, so like the theminimum wage worker who wants to have lots of money, your only option in this case (since you can’t take in a lot of money eg absorb high amounts of B6, Folate or B12), your only option is to systematically save and avoid wasting your “money” (eg B6, Folate, B12)
You can do this by not doing things that use up B6 and Folate:
like avoid SSRI psych meds, Type 2 Diabetes meds, Birth Control pills (as they all deplete Folate), also Alcohol depletes Folate and Fluorescent ugly squiggly light bulbs do and the light from the computer does, so stay off the computer and buy incandescent light bulbs for the home and try to use an old style non fluorescent type tv set.
Also avoid all saturated fats except for organic coconut oil (all sat fats except for coconut oil have molecules that are too large to get into the cells. It uses up the body’s stores of Lysine and B6 to break these large molecules apart, so only eat organic coconut oil. Costco has 78oz tubs of Nutiva Organic Coconut Oil for around $23.
Dont wait too long to eat (that uses up B6, as B6 has to help the liver make sugar for the brain when you go too long without eating)
Also, and I know this sounds counterintuitive since all veggies are supposed to be good for us, but avoid veggies high in oxalic acid (this equals kale and spinach and broccoli etc). Oxalic acid is toxic and uses up stores of B6 in order to convert it to a non toxic form. So don’t eat any high oxalic acid foods.
And the most damaging depleting B6 thing there is is avoid foods high in MSG and that also means other msg like chemicals like autolyzed yeast extract, Hydrolyzed soy protein, soy sauce, soy based foods, soy lecithin. All of these foods are high in glutamate and that is an excitatory neurotransmitter and the body uses up its B6 stores to convert excess glutamate in the brain to GABA, so eating MSG and other high glutamate foods is very damaging and depleting of bodily stores of B6.
And also avoid foods high in phosphorous because it uses up B6 stores to excrete excess phosphorous from the body. it is best to eat lean red meat (to increase protein)(its high in phosphorous, but “pays for itself” since the protein levels are so high), take Trace Minerals Research “Mega Mag” Ionic Liquid Magnesium Chloride (which helps to calm the system and helps to absorb protein and helps B vitamin absorption) And eat potatoes which are low in phosphorous, but high in B6 and vitamin C Complex and oranges and Organic Romaine lettuce (high in Folate) and avocados (high in glutathione). One of B6’s jobs is to make glutathione, so if you eat foods high in glutathione, it will save your body’s stores of B6. Foods high in glutathione are: avocados, cactus, okra, watermelon
(but watch out for watermelon because it has a very high glycemic index (too much fast sugar) and fast sugars turbocharge excess phosphorous into the cells which then turbo charge excess calcium into the cells, and calcium raises electrical firing of the cells which then causes pain and irritability. Too much calcium in the cells also tires out the mitochondria and you make less ATP (the cells sustainable energy source) and so then are compelled to eat foods like coffee that cause adrenalin release which is a nonsustainable energy source and you then drain yourself of B6 and Folate even more and then feel more compelled to get an adrenalin (non sustainable energy boost) and then an evil cycle emerges and you get too far behind in your ability to absorb enough B6 and Folate. (It takes B6 to absorb both B6 and Folate, so the lower your base stores are of B6, the less you will be able to absorb B6 and Folate and possibly B12.
So Take great precautions not to waste your B6 and Folate stores!!!!!
QueenBeeTV — where is the evidence or research to back up your claims that fluorescent light and computers deplete folate — and also your statement that saturated fat is bad and doesn’t get into cells?
Also, are you aware that many cannot tolerate even tiny doses of B6 without getting neuropathy?
I recently found out that I have compound heterozygous MTHFR C677T mutation and A1298C mutation. Before I knew this, I was taking methylcobalamin B12 (sublingual) and no folate. I had a test done earlier this year and my B12 was high at 1164 (range 145-670) and folate was 10 (range 5.9-22.3). So the doc told me to stop the B12 and I did. If the mutation is supposed to require more B12, then why was my B12 so high? Should I start taking it again? Should I add the folate too? I had to beg for these tests, so getting retested is not an option at this point…military medicine doesn’t like you to questions or ask for testing, so I am often left to my own devices. Any advice you could give is much appreciated. Heather
Hi Heather,
Serum B12 is not an accurate measure of intracellular levels and even if it is elevated you can be low in B12. Some people have other genetic mutation that makes it hard for B12 to enter the cells. In this case, despite elevated serum B12, you may still be lacking intracellularly. I recommend methylmalonic acid as a more accurate measure of B12 status.
warmly
Dr Jill
My grandosn has ITP and we’ve only been able to barely manage it. No one seems to know what to do, so when I came across MTHFR information I had some hope. Our diet has already been extremely clean for years because of trying everything within our reach to correct the problem. We’ve requested some genetic testing but haven’t heard if we were approved. Meanwhile we are using a product called Ceralin by Metagenics with the hope that this would make a difference in his platelet levels. Thanks for all the great info!!
Hello. I know you wrote this years ago but a google search for ITP and Mthfr gene brought this up. My son has ITP and we’re going on 1 1/2 years now. Did you find anything that helped your grandson? I am just now learning about mthfr and don’t even know where to start. Thanks again.
Hi. I have suffered for about 10 years with muscle and joint pain, chronic fatigue, rashes, headaches and stomach problems. Ive been tested for everything. Recently I had the mthfr testing done and they said I have the c677t heterozygous gene thats mutated. I spoke with a geneticist counselor and he told me that this is not significant and should not cause any of these symptoms . He said my other gene is working fine. I was looking for answers and thought this was it. Does having these mutated gene matter and does affect me?.. Kelly
Hi Kelly, one mutation commonly causes a decrease in activity of that particular gene so it does play into health and disease. Genes like this are not the sole cause of illness and thus your geneticists comments. They do make it more difficult for you to repair DNA, create neurotransmitters and help you get rid of toxins. I suspect you also have some dysbiois in your intestines that may be contributing to symptoms as well. Please find a functional medicine trained doc in your area to consult who can do organic acid and stool testing to determine underlying cause of your symptoms. Optimizing methylation will also play a role in getting your health back! Wishing you the best!
warmly
Dr Jill
Hello docter Jill,
I saw youre comment on B6.
I was wondering what to do?
I always use high dose of B6 the active form P5P, because of pyrroluri. I am homozygoot MTHFR A1298C.
But now i had to stop because i get neuropatic pain of B6 ( P5P).
Hoe is that possible ? I only use 35mg.
En now when i eat rice i got also neuropathy from the dose B6 in it i think…
Can you please help me what to do?
Im also depressed because of low neurotrsnsmitters ( i think dopamin bacause in also VDR Taq homo, and got low BH4).
Do you think i can take some SAM-E depression?
Or better tyrose 5htp sint johns wort tmg or something?
Thanks for youre help! I really appericiated.
( sorry for my bad English, im from the Netherlands!).
Hi Kelly,
thanks for your note. This is complicated and I suggest you get someone to do further testing – genetic SNPs, organic acids and other labs to determine what the problem is. If you have pyrroluria you likely need B6 but you should use caution if you are getting neuropathy.
warmly
Dr Jill
Hi Dr. Jill
I am at a loss of what to do.
I have been getting tired so easily, especially during my period when I can barely function. I get food comas easily, and don’t know what foods to avoid, what foods to gravitate towards, and what supplements I should be taking. I don’t know of anyone who I can physically go to, who understands and can remedy the interactions of my genetic mutations like you do. I am in college, and already affected by stress so I am in great need of optimizing my methylation levels. Please help, Dr. Jill 🙁
My genetic mutations are:
MAOA R297R: +/-
MTHFR C677T: +/-
CBS A360A: +/+
COMT V158M: +/+
COMT H62H: +/+
VDR Taq: +/+
BHMT-02: +/+
BHMT-08: +/-
Hi Trufflie,
Genetic mutations don’t determine health in isolation. I suggest finding a functional medicine doc in your area and getting testing done to determine the cause of your fatigue. There could be toxic overload, hidden infections, food allergies or other things contributing and its important to treat the underlying cause. If you want to search by zip code, go to http://www.functionalmedicine.org.
Wish you the best in healing!
Warmly,
dr Jill
Hi Dr. Jill,
I just noticed a notice that 23 and Me no longer offers health screenings, just ancestral info. Is there another website that offers MTHFR screening?
“December 2013 – Pending an FDA decision, 23andMe no longer offers new customers access to health reports. Customers who received their health information prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will only receive their ancestry information as well as access to their uninterpreted raw data.”
Thanks,
Carol
Hi Carol,
They still offer all the same raw data, but only will not interpret it for you…. there are many third party reports for MTHFR and other genetic SNP mutations available, like prometheus, genetic genie and MTHFR support. The raw data is well worth the $99 price!
warmly
Dr. Jill
Dr. Jill
Is it still the case with 23&Me that they offer the raw data and ancestry information?
Last post about this was 7 months ago. I saw websites that offer interpretation and other resources for finding a local practitioner who can help interpret the raw data. Just don’t want to spend the $99 if not getting raw data! Thanks for your great work and sharing it.
Ann
Yes, you will get all the raw data from 23andMe to do whatever SNP report you prefer!
HELLO JILL, MY NAME IS JOE AND AM WRITING TO YOU ABOUT MY 15 YR OLD SON HE HAD BLOOD WORK DONE AND HAS THE 1298 WITH BOTH GENES FROM BOTH PARENTS HIS MAIN ISSUES IS VERY VERY BAD MIGRAINE HEADACHES THEY PUT HIM ON L- METHYLFOLATE 15 AND HE DID NOT DO WELL WITH THIS BAD SIDE AFFECTS WHAT CAN WE DO TO STOP THE HEADACHES PLEASE HELP US HE IS TO THE POINT WHERE HE SAYS HE JUST WANTS TO DIE CAUSE HE CANT TAKE THE PAIN ANYMORE.
Hi Joe,
I am so sorry to hear about your son’s pain. Just the genes themselves will not cause migraines so its best to investigate and treat the underlying cause and triggers. He might try an elimination diet, like this one to determine if there are food triggers. Best to find a functional medicine trained doc in your area who can help him to get his life back. Usually just adding methyl-folate to a person with an MTHFR gene mutation will not solve the problem and sometimes makes things worse.
Warmly
Dr Jill
Have they done a MRI or MRV? I suffered bad migraine and it was actually clotting in the brain…
Riboflavin helped my migraines but they were not as bad as your son’s.
Dr. Jill,
I was recently diagnosed with methylenetetrahydrofolate reductase . I was tested through my Neurologist ( I had developed clots in the brain) so to find out I had this gene. What type of Doctor (specialist) should I reach out to? Thank you!
Angel
Hi Angel,
You should try to find a integrative MD or functional medicine trained doc in your area – search by zip code here.
warmly
Dr Jill
I am so confused. I have been diagnosed with one copy of the A1298C mutation. I have numerous issues at age 60. Joint pain, muscle pain, adrenal fatigue, low D, high ferritin…. however, I have read all sorts of websites and literature that conflict with each other. Some say the A1298C mutation is not connected to any health issues and some say it has similar affects as C677T. Something is definitely wrong with me (liver/ovary ultrasounds okay, numerous blood tests). What is your opinion?
Hi Lisa,
Genetic SNPs alone do not determine health or disease. It is a combination of your genes and environmental triggers, such as infection, toxic exposures, gut health, life stress, etc. So there are some patients who have A1298C with no health issues and others who do.
warmly
Dr. Jill
Have you been tested for haemochromatosis?
That’s what I have and need regular venesections to remove the iron.
hi
i was dignosed with hetero c6777t mutation …im living in a coutry where folate is not found …so i use folic acid high dose 10mg per day alonv with vitamin b6 and b12 …i manage to get metafolin 8mcg …so i wounder should i take it in hight dose as folic acid ..or as it is the active form which is already methylated should i take the t recommended daily dose …N.B. im trying to get pregnant
hi Marwa, I recommend taking active folate (methyl-folate or 5-MTHF) 1-2mg for pregnancy
warmly
Dr Jill
the metafolin dose i got is 800 mcg …not 8 …sorry
thx dr Jill …i searched on net and found that metofolin is l-methyl folate is this true …f true i should take 2- 3 tab. per day from solgar 80mcg …right?
Hi,
Have started Methyl1c BioEnhanced by Orthoplex and have come up with swollen lymph nodes under my armpits. Was wondering if the medication could be causing this. I am also taking a high dose of Milk Thistle and chlorophyll as a detox as well. I have been on it all for about 3 weeks.
Hi Sonya,
If you push the detox pathways too quickly and you are not eliminating toxins properly, you may feel unwell. I suggest decreasing your supplementation until the lymph nodes improve or enhance lymphatic drainage through sauna, dry brushing, manual lymphatic massage or other therapies.
Warmly
Dr Jill
Hi Dr C,
I am having a hard time understanding the implications of a positive test for heterozygous a1298c mthfr.
It’s my understanding that both a homozygous 677T or homozygous a1298c needs treatment. That a compound hetero 677T / a1298c needs treatment. But the information gets really fuzzy around a positive for only the a1298c hetero.
I am seeing a nutritionist and tests revealed hetero a1298c and borderline low b12 serum levels. He that said it may be beneficial for me to take 2mcg of methyl b12 and a b vitamin complex. I have symptoms of fatigue, anxiety and depression. Is treatment recommended for the hetero a1298c when these symptoms are present?
I don’t recommend treatment on genetic SNPs alone so there is no protocol for MTHFR heterozygous A1298C. It depends on your symptoms and other nutritional demands/deficiencies. Many patients with only one copy of MTHFR A1298C need no treatment.
Thanks Jill for your previous reply. So you do think that it all could be responsible for the lymph nodes? I don’t feel unwell the lymph nodes are just a littles swollen. Should I still decrease the supplements or should they settle themselves.
Thanks
Hi Jill,
Quick question. I took a strong b-complex some time ago, and felt really bad for 2 days. Foggy brain, and out of focus. My b12 was low last year and so i supplemented, and now should be fine. But im getting bald and have a feeling now, that i am not absorbing b7 and other b vitamins, contributing to this. I have candida as well after i got antibiotics. If I would have a MTHFR Gene Mutation, could i be right in my assumptions then, or does this mutation only affect b12 absorption? I really want to try and supplement with b vitamins to see if my hair will become thick and healthy again im only 33 and the only one in the family with sudden baldness, my mothers father had lots of hair. What can i do?
Thank you,
Don
Hi Don,
Sensitive patients often need to supplement B vitamins individually until they find out what they can tolerate. I suspect you’d do fine on a Biotin 5mg tab. You could then carefully try adding something like Prothera Active B complex, which is generally well tolerated and contains all active forms of the important B’s (order direct from Prothera using code 618 if you like).
Warmly
Dr Jill
Hello Dr. Jill
I recently saw that I have the heterozygous C677T mutation. I have two brief questions:
1) Even with normal iron/ folate levels can homocysteines still be elevated? In other words, can routine labs look normal and still have elevated homocysteines?
2) what tests do you recommend my general physician run to make sure true iron/ folate/ homocysteine levels are normal to get a big picture?
Your time in truly appreciated
Hi Jacqueline,
Yes, many things affect homocysteine, including B12 levels. So yes, you can have normal labs and elevated homocysteine. Especially since serum B12 is such a poor marker for intracellular levels. Serum MMA is a more sensitive marker of B12 sufficiency. You can have your doc run CMP, CBC, TSH, free T4, homocysteine, B12/folate, ferritin, iron panel to check in with these things.
warmly
Dr Jill
Great thanks so much for your answer
I am homozygous C677T and would like your opinion on the gentlest supplement to help the liver detox – NAC or milk thistle? I am starting a candida program- thank you!
Hi Sally,
For liver detox, I would choose milk thistle over NAC
warmly
Dr Jill
My son was tested through genomind because we were considering putting him on an ssri. He has something called PANDAS… terrible ocd/anxiety as a result. My question is that with the results of this test (it lists 5HT2C, DRD@, CACNA1C, ANK3, COMT, CYP3A4/5, SLC6A4, MTHFR, CYP2D6 and CYP2C19 – and I know what none of this means…) should I also do the 23andme test for him? Also, I live in NY – do you do phone consultations? Thanks!
Hi Eliza,
I would consult with a functional medicine expert in your area on this question. You can search by zip code at http://www.functionalmedicine.org if you like. I do phone consultations as well but you would need a referral.
warmly
Dr Jill
CYP P450 Cytochromes are the Phase 2 detoxification enzymes for the liver in detoxifying. Briefly, this is what these mean:
CYP3A4/5—CYP3A4 It’s purpose is to oxidize small foreign organic molecules (xenobiotics), such as toxins or drugs, so that they can be removed from the body.
CYP2D6—Metabolizes 25% of commonly prescribed drugs: antidepressants, antipsychotics, analgesics/antitussives, beta blockers/antihypertensives, antiarrythmics, antiemetics, antiestrogens, alpha-blockers, anticonvulsives, antidiabetics, cardioactives, norepinephrine reuptake inhibitors, stimulants
CYP2C19—involved in the metabolism of xenobiotics, including many proton pump inhibitors and antiepileptics. a liver enzyme that acts on 10-15% of drugs in current clinical use
In other words, your son’s liver would have hard time detoxifiying pharma/OTC drugs; also depends on if he is +/+ or +/- as to how much his liver would be able to detoxify medications using these detoxification pathways. Any and all pharma drugs would have to be checked to see if they use any of these 3 pathways to detox.
Hi Ma’am,
I am looking into the 23andme genetic profile. Currently the website says they only provide ancestry and raw data. Can you tell me what exactly I can learn from this test on my own? I don’t want to read too much into it, but for a while now I’ve thought I was histamine intolerant/ mast cell disorder/mastocytosis. This time last year I travelled to Mayo in Rochester, only to leave after 9 days still being told I had fibromyalgia. I had requested genetic testing for histamine intolerance as well as testing for Celiac’s, neither of my requests or reasoning was heard. My grandmother and great grandmother were both diagnosed with colon cancer, my grandmother and I have very similar symptoms and she has been diagnosed with several autoimmune diseases.
I live in Oklahoma and at this point would be willing to travel for an appt with you. For the past month I’ve been on a gluten free, preservative free diet. I feel so much better. I say this from experience with trying various dietary changes in order to feel better. I eat beef raised and processed locally from a little man who lives just a couple miles from my parents. My chicken comes from whe foods and I avoid leftovers. My mouth, tongue, and gums often get raw or blisters after eating greasy foods or leftovers. This is just the beginning. Since going GF my skin rash is disappearing and my pigment is coming back.
Thank you for your help! Any advice is greatly appreciated.
Hi Jennifer – 23andme still gives you all the raw data for complete genetic profile so you will get the same info, they will just not interpret it for you, like they did before. Well worth the $99 to have that type of information!
warmly
Dr Jill
Hi Ma’am
I am really surprised by seeing so much your important advices/consultancy for MTHFR mutation.
I am currently 33 yrs old and diagnosed with DVT before last four months.
I referred one haematologist and he told me i have MTHFR mutation causing high homocysteine level.
Currently i am on blood thinner ‘Warfarrin” for six months and he told me if after six months.DCT recurres,i have to contunue blood thinner life long which simply i cant tolerate b’cse i m suffering from weakness,muscle pain,headache,joint pain etc.
So,pls tell me what to do to avoid bad effects of MTHFR mutation.
Also,pls tell me if MTHFR mutation is only reason for DVT.Thnx
Hi Ganesh,
This is far too complicated to give advice in an online setting. I suggest you consult with your doctor or find a functional medicine physician trained with MTFHR mutations in your area. I am sorry I cannot advise you.
warmly
Dr Jill
Dr. Jill,
My doctor prescribed me 5-MTHF. Is it ok to take while breastfeeding my 1 year old?
I tested positive for the MTHFR gene mutation.
Yes, that should be fine, but I don’t recommend going over 1-2mg daily
ok, thanks for your reply. The capsules are 4 mg each. How would I half them?
Get Thorne 5-MTHF 1mg and take 1 daily instead… you can order from Thorne using code: HCP1004064
or should I maybe take one every other day?
Hello Jill,
Firstly thankyou for making available all of the information on your website.I have a brief question and if you are able to provide any advice at all that would be greatly appreciated (as I have seen two GPs in the hopes of understanding my test results but neither were familiar with the MTHFR genetics).
After coming across an article on anxiety and depression and its possible link to MTHFR mutation, I decided to order this gene test as I have had chronic anxiety for the past 12 years and intermittent periods of depression. I am 34 years old and apart from living with an extremely disruptive form of social anxiety which responded to none of the many treatments I tried for it, I am otherwise physically healthy and try to eat well and exercise regularly.
My test came back as homozygous C677T and looking at old blood tests (from years ago) it appears that I do not have elevated blood homocysteine levels. I do have sluggish circulation, though, which I find strange since I am reasonably active. Based on this, would you be able to tell me which supplements might be safe to try and which should be avoided? From reading various articles I think methylfolate and/or folinic acid are possibly beneficial, but folic acid and niacin are the ones to avoid – does this sound correct?
Thankyou so much for any reply you are able to provide. Regards, Alison.
Hi Alison,
I wish I had an easy answer to give you but it is important not to treat the SNPs but treat the person so in order to give you medical advice I would have to consult with you and know the rest of your history. Anxiety or mood disorders, even if you have homozygous C677T can be for many reasons, like gut dysbiosis, neurotransmitter imbalance/insufficiency, toxic exposure, or nutritional deficiencies. In some cases methyl-folate will make anxiety worse if there are other nutrients lacking. I suggest finding an expert near you to consult with and do the appropriate testing to determine underlying cause of mood changes in your case.
Wish you the best in health and healing,
warmly
Dr Jill
Hello Jill, thanks for your response and for the suggestions. Kind regards, Alison.
Hi Dr. Jill,
My daughter is heterozygous for the MTHFR mutation. She is currently taking Deplin 15, NAC and B100 complex. Her depression has been markedly effected for the better, but she is having severe joint pain in her ankles, knees and some pain in her hips. She also has occasional back pain. Is it possible that this pain is related to heavy metal toxicity? After reading several websites I have told her to stop using her deodorant, just to be safe, but are there other things she could be doing to help?
Also, we are moving to Fort Collins in June, are you the only functional medicine physician close to Ft. Collins or do you know of one there?
Thank You
Hi Tracy,
Pain could be related to food intolerances, heavy metals, autoimmunity, gut dysbiosis, or supplements. Unfortunately hard to tell without testing. You can search for functional medicine docs trained by zip code at http://www.functionalmedicine.org.
warmly
Dr Jill
Thank You Dr. Jill…
It looks like you are the closest MD to Fort Collins. Do you take new patients and do you take medicaid insurance? I would love to have my daughter connect with a doctor that is educated about her situation.
Gratefully,
Tracy
Hi Tracy,
Here is information about my office and fees. We do not bill insurance or medicaid. I do have a waiting list to see new patients but would happy to put your daughter on the list if you contact the office.
blessings in health,
Dr Jill
Okay…well, I’m a student and so is my daughter and our finances don’t have room for medical expenses not covered by insurance/medicaid. Thank you for getting back to me, I guess I will have to find a doctor who knows about MTHFR that accepts insurance.
Thank you anyway,
Tracy
Tracy,
If your daughter has any mercury-containing dental amalgam fillings (silver fillings), you might want to start by seeing if any of the biologic dentists in Texas take Medicaid. There is a find a dentist search at the website, http://www.iaomt.org. They are the only dentists who know how to remove them safely using more protection than a dental dam.
Tracy, another place to start is to get a 6-hr provocation urine test to see what the heavy metal concentration is in your daughter’s body. If she has had any vaccines combined with the MTHFR mutation she will most likely have heavy metal toxicity and needs to be chelated.
ACurtis, I rarely recommend urine provocation testing as the validity is in question. Now I use Quicksilver mercury testing to determine rate of excretion and find the accuracy much better. I still run whole blood screening on heavy metals as well
My daughter does have the MTHFR A1298C mutation, and she is experiencing intractable epilepsy. What are your thoughts on this. Also could you let me know if there is a doctor in the state of Michigan who might listen to my concerns?
Hi Margie,
Try searching for functional trained docs by zip code at http://www.functionalmedicine.org. You might seek out functional neurologist, Dr. Perlmutter in Naples if you really want the expert.
warmly
Dr Jill
Hello,
I recently found out that I am compound heterozygous MTHFR. I also have Undifferentiated Connective Tissue Disease(positive RF, positive anti-CCP, equivocal anti-dsdna, negative ANA), multiple miscarriages and a few other bizarre conditions. All of my siblings have an auto-immune disease of some sort and nearly all of my cousins, as well.
I take a lot of medications for the UCTD, namely Methotrexate, Folic Acid(Rx’d), Prednisone(low dose) and Plaquenil. From what I have read, Methotrexate is a no-no with this(maybe) and I am trying to understand the Folic Acid part too….I also have the poor metabolizer of certain drugs genes(I have a few).
I am thinking genetic counseling might be a great help and trying to understand how to help myself feel better. I have eliminate GMO’s, refined sugar, preservatives and eat nearly completely organic…and I am a picky about my organics too.
Any thoughts and suggestions would be appreciated.
Thank You
Hi Gayle,
I suggest finding a functional medicine trained doc in your area and looking at underlying infections, toxic exposures, and inflammation that might be contributing to your symptoms. Starting with a clean diet is a great idea!
warmly
Dr Jill
Hi Dr Carnahan. Is there any one you would recommend to test and treat compromised cleansing pathways along with the lack of MTHFR gene in the Los Angeles area? Any help or direction is greatly appreciated. Thank you!
Hi Alle,
There are lots of great functional medicine docs in California. I suggest searching by zip code at http://www.functionalmedicine.org.
warmly
Dr Jill
I an 45 .. my poor mom passed away at my age.. she had so much wrong.. my little sister was 39 when she passed.. I am having alot of problems .. I truely believe i have this.. i am on adhd meds and a nerve pill.. not helping..i seriously have always believed adhd and dementia are related.. i am from iowa.. i am ordering the test from 23 & me then i would like to know if i could travel to colorado to see you and be treated by you at a distance.. i dont trust drs where i am from unless you know of one in omaha nebraska which is right next door.. looking foward to your reply..
Hi Kelkie,
I am sorry to hear about your mother and sister. It is very possible you have the MTHFR gene mutation but there is likely other factors contributing to your illness. You may message me directly about appointments through the “Contact Us” button on my website. You might also try searching for functional medicine trained docs by zip code at http://www.functionalmedicine.org.
warmly
Dr Jill
Hello, I was wondering about vitamin b6. Is it okay for someone to supplement with this a cbs mutation? I found one b-complex that I think might make a difference in me to take everyday, thorne research stress b-complex. Here are my mutations.
1. MTHFR A1298C +/-
2. BHMT-08 +/+
3. CBS C699T+/+
I think the extra b5 will be good for adrenal support, and stress, and I like this contains a low dose of methylfolate and methylb12 to start methylation; however, I was debating whether I should take another pill later in the day, or just supplement with more b5, b12, or not. I’m just sort of concerned because I have read that you can get too much b6. Seems like you are very knowledgeable in this area.
Hi Kyle,
In general I am fan of complete B complex, like Prothera Active B complex (you can order direct from Prothera using code = 618) as most people do better on a complete B vitamin. Usually the amounts in a multi-B will not cause problems but you are right to use a bit of caution with the CBS mutation. P5P is better tolerated in some patients that B6, which is another reason I prefer the Prothera Active B.
Warmly
Dr Jill
Dr. Jill,
The mthfr gene runs in my family. I have recently found out that I am heterozygous c677t. My husband and I are thinking of starting a family. I am wondering if you can recommend a prenatal vitamin. Also- can you recommend a vitamin for after pregnancy (and after breastfeeding). I currently do not take a regular multivitamin. I have an extremely hard time swallowing pills. Both my primary dr and on/gyn have said regular prenatal vitamins are fine to take.
Thank you for your time and thoughts!!
Laura
Hi Laura,
I recommend Thorne Basic Prenatal 3 caps daily, which contains the active forms of folate that you need. You may also want to take Thorne 5MTHF 1mg daily to be sure you have adequate folate. You can get both direct from professional manufacturer by using physician code: HCP1004064 and free shipping if you add, “Dr Jill Patients free shipping” in comments at check-out.
warmly
Dr Jill
Dear Dr Jill,
I am 34 year old female, i was diagnosed Factor V Leiden (G1691A) HOMOZYGOUS and HETEROZYGOUS for MTHFR (C677T).
Also i am G6PD.
I had 5 miscarriages knowing that i was put on Heparin (Lovenox 40mg) twice daily and folic acid but did not save me from miscarriages, my last miscarriage was yesterday!!
All Drs are focusing on Factor v and ignoring MTHFR issue even my Hematologist.
I already read that MTHFR should take folate and not folic acid since our body is not able to decompose it.
Please assist me by any means since i do not live in United states.
Thank you in advance for your help.
Ziena,
I am so sorry to hear about your many miscarriages. Unfortunately, as you might imagine, I cannot do medical consults over the internet.
warmly,
Dr. Jill
Is there any link between MTHFR and Asian Flush syndrome? I have recently been diagnosed with MTHFR and have suspected for the last few years that I suffer from Asian flush.
Thank you!
Hi Kristen
I am not aware on an association.
warmly
Dr Jill
You mean avoud taking folate-blocking drugs. Folic acid is useless for people who are homozygous for an MTHFR mutation (two copies of the gene). It isn’t folate but a precursor. I know the government says they are the same but that’s just not true.
Not useless as everyone still has some enzymatic activity, even with mutations…. just much less than someone without MTHFR mutations. It’s not an all or nothing issue, just less efficient 😉
Hi Dr. Jill! Is the 23and me a saliva test; or can a blood lab be ordered by a physician and get the same results. Also, if some one is compound Heteregeouz you mentioned being careful about adding the folate and B12. In your opinion is this because we might be ‘over methylating” or “under methylating”-which would cause this? So if we can not tolerate the methyl folate and B12 would we still be able to eat those foods or should we limit them?
Hi Matina,
23andme is saliva testing for 100’s of SNPs. A physician can order just MTHFR DNA mutation analysis through blood but it is 2-3X the cost for just one SNP. Everyone is a unique blend of mutations and just adding methyl-B12 and methyl-folate doesn’t work for everyone.
warmly
Dr. Jill
I have struggled for many years with depression and anxiety, as a male I have always adopted the suck it up attitude. The truth is one can suck it up, walk it off, or just cry in a heap prostrated on the ground. So I had my mthfr test done I am hetrozygose in the c677t gene and hetrozugose in the A1298C. The reason for this was to detect the deep vein thrombosis my mother suffers through and the dementia. But seems I carry that gene as well, so along with Diabetes and secondary hypogonadism I may as well just reserve myself to this fate. My doctor wants me on deplinm its extremely expensive I really did not need another chronic health malady. Diabetes in itself would have been bad enough, but now to look at my Mother and see my future only compounded by metabolic disease is a little taxing.
Hi Kendall,
Deplane would be an excellent idea but you could also try Thorne Research 5MTHF 5mg tabs To ensure quality, you may order direct from Thorne Research, using physician code: HCP1004064. Hope that helps!
warmly
Dr Jill
Hello Dr. Jill,
I’m 28 Year Old Male and i diagnosed with TT: homozygot for t677T. i started for about 4 weeks ago with 400 mcg active folate (MTHF) and 1000mcg methylcobalamin spray. Is this enough for my mutation, because i had read about “deplin” who had 7.5 mg l-methylfolate in it, and that makes me unsure.
I would appreciated an answer, thanks
Michael
Hi Michael,
There is no one-size fits all and there are many other genetic SNPS that affect methylation besides just MTHFR. Generally homozygous mutations require more than heterozygous but you will need to work with your physician to get the right dose.
warmly
Dr Jill
Hello Dr. Jill
I’m so glad to hear of a doctor who understands this condition. Most of mine are clueless. So first I live in CA, do you ever do phone or Skype appts? Secondly this is my major concern. I have read about avoiding heavy metals, so does that mean that a titanium knee replacement is not a good idea for me? I am 41 and have terrible knee pain. We have tried everything else and they are recommending a metal knee replacement. When I ask them about it they don’t have a clue. Also if I’m able to get stem cells for my knee would the MTHFR mess up the process that the stem cells would have to take? Anyhow I really hope you can at least answer my question about a metal knee replacement. Thanks soooo much. I have to decide very soon.
Emily
Hi Emily
Titanium may not be a problem but you can get MELISA testing to determine which metals are a problem for you. I don’t think MTHFR would affect your stem cells either
warmly
Dr Jill
I think I have to go and set an appoinment to the Doctor to know whether if I have this genetic mutation or not. Since my histamine level is at high, I need something or any supplementation to breaks down this organic nitrogenous compound to prevent wreck havoc in my body. I am afraid that it may costs so much of money and it has side effects that may harm me physically.
Hi Amber,
You might try Xymogen HistDAO taken with meals to decrease histamine load. You can order direct from Xymogen using code: DrJill and last name: Carnahan
warmly
Dr Jill
Hi. Regarding the recommendation to avoid aluminum exposure in antiperspirants, I found one that has silver instead (silver citrate to be exact). It is sold as a healthy alternative but is that any better? Silver is still a metal.
Hi Jill
Do the ten tips apply to people with both homo and hetero mutations? Thanks
Hi Laura,
It depends on your medical condition and other symptoms but yes, they may apply to either.
warmly
Dr Jill
Hi again Jill. Regarding my above questions about antiperspirants without aluminum, the full ingredients of the one I mentioned are at (http://stayhealthyhub.com.au/index.php/wild-pink-charm-antiperspirant-roll-on). Does that look safe? Thanks.
Hi- I am homozygous C677t and looking into prenatal vitamins. I was looking at Thorne prenatal, but I am concerned about the amount of vitamin K1 in it. Is Vitamin K1 contraindicated with mthfr, especially at that amount? I have no other clotting factors and my homocysteine is currently 11. Thank you!
Hi Ally,
Vitamin K is not universally contraindicated just because you have an MTHFR mutation.
warmly
Dr Jill
Hi Jill thanks for sharing information .
I am having IBS, RLS and stammering since childhood. Since 6 years I am having itching and increased appetite. I went to many hospitals to test my MTHFR gen but they don’t have much idea about it and none of them gave proper diagnose. Once I tried methylB9 it makes me completely new person but it lost only for 2 days. Any suggestions are very valuable for me. (I am from India.)
Hi Vasu,
I suggest having your doctor test you for SIBO – read more here
warmly
Dr Jill
Hi Dr. Jill
You mention naicin can interfere with methylation. What about niacinamide? I was put on Niacninamdie (3000 mg) for OCD-like symptoms and anxiety, but recently got a genetic test and am heterogenous for both C677t and A1298C
Thank you
Hi Joanne,
It all depends on the adequacy of your methyl donors. If you are very low on methyl-B12 and methyl-folate you may not tolerate it. However, it’s all a balancing act and everyone needs to have some niacin, too. If you give too many methyl donors or too much niacin, either way you can get into trouble.
warmly
Dr Jill
Hi Dr. Jill
Thanks for responding to my previous question. Tests came back okay for B12. How do I know if I am low on methyl folate? Do I need that tested as well? Also – does niacinamide work the same as niacin? I think I should probably go off it for awhile and just get B3 from a B complex.
Recently diagnosed with Hashimotos and MTHFR gene mutation. For most of my adult life I’ve eaten a clean healthy diet, exercised and been active. However, I experienced odd symptoms that physicians had trouble diagnosing most of my life that didn’t make sense and confused them. I find I managed and could live with those symptoms. What has become increasingly difficult and life altering is the decades of insomnia. As I’ve became older, (60+) I find I have difficulty fully functioning with only two-three hours of sleep. Advice please! I’ve an excellent functional medicine physician and we’ve explored many options with pharmaceuticals. Ive always follow a sleep hygiene ritual and do all the ‘right things’ to produce a relaxed, nurturing environment conducive to sleep. I fit in three to five days of cardio and strength training and yoga. Sleep studies, show no apnea and I’m missing out on life as many times I have to cancel work and social events because of the lack of sleep. No sleep means I’ll be dizzy, light headed, nauseous, brain fogged and not pleasant to be around. Any advice would be appreciated.
Hi Jewels,
You might try gaba, valerian root, Bach flowers rescue remedy or melatonin for sleep
warmly
Dr Jill
I have both MTHFR gene mutations, and recently started on Thorne’s 1mg Methylfolate, and a broad spectrum vitamin B12 spray (the methylated kind). The first time I took it I felt quite euphoric. I have read that this may mean I need to reduce the amount I am taking, and that it may not work as well in the future; is this correct even at 1mg? I have experienced depression, anxiety, panic attacks, ADHD, slight OCD, severe pain, headaches, night sweats, high blood pressure, stomach aches, nausea, insomnia, asthma, Opioid dependency, seizures (caused by Tramadol), and appetite issues. I have been on several different ADHD mediations, benzodiazepines, SSRI’s, Migraine medication, sleeping pills, and very potent Opioid pain medications/doses. I found that while treating my pain with the Opioid pain killers, that it seemed to help solve some of the other problems that I was trying to treat with the other medications (I know that this is obviously a BAD thing). I have had my monoamine neurotransmitters tested, and they all tested VERY low. I wonder if, in time, this will help. I also wonder if the two MTHFR mutations have been the source of my problems (some or all). Do you think this will help? Will the “good” feeling I initially had subside? And should my dose be altered or supplemented?
Hi Michael,
It really depends as each individual is different, what I recommend is that you try the B12 and stop if you start feeling poorly
warmly
Dr. Jill
I was just tested for the MTHFR Mutation because my brother was recently diagnosed with the same after a myriad of health issues for years. My test results were positive for one copy of the C677T mutation and one copy of the A1298C mutation, or compound heterozygous for the mutations. My Homocysteine levels were tested and are normal, as well as vitamin B12 (normal) and B6 (B6 was actually high). Serum Folates were also normal. My doctor’s comments on the result was that I was a “carrier” of the MTHFR gene but I did not have the disease. I compared my result to what result my brother received, and we were both diagnosed heterozygous. I’ve read in other forums that this compound is a “worst case scenario”. I do not seem to have any medical symptoms at this time, but would like to be proactive if I can prevent similar health issues my brother had (thyroid cancer, seizures, sensitivities, neurological problems). My brother began to take a methylfolate supplement under the care of his physician and almost immediately began to feel better and his symptoms have all but disappeared. Should I follow up with my doctor, or get another opinion, or just continue living and pretend this all didn’t happen?
Hi Jeff,
It would be a good idea to supplement with at least a multivitamin with methyl-folate in it and all other B vitamins in their active form. I suggest Thorne Basic Nutrients 2/day or similar. If you’d like to order direct from thorne.com, you may use my physician code: HCP1004064. You can also add 5MTHF 1mg daily but make sure you feel well with supplementation and stop immediately if you have any side effects. Everyone is different and serum labs don’t always accurately show intracellular levels of the vitamins.
warmly
Dr Jill
Hi
Does the 23andme test tell you if you have a single or dual MTHFR gene mutation? My husband & I are trying to get pregnant and I’ve just uncovered this & I believe this is an issue as I am a classic case. I have moved all my B vitamins & folate to methyl form but want to know if I am a single/dual as I’ve heard there are different things that I will need to do once I get pregnant depending on if I am single or dual.
Thanks Miriam
Yes, Miriam
23andMe will give you all the raw data to determine any MTHFR genetic SNPs and many many more.
warmly
Dr Jill
Thanks so much for getting back to me so swiftly 🙂
Hi!
I have been diagnosed with homozygous A1298C MTHFR mutation. My Dr. prescribed the L-5-MTHF (5-methyltetrahydrofolate) supplement. I took the recommended 1000 mcg dose just once and within 25 minutes started to feel awful (previously felt fine and was on my way to work out). I ended up in Urgent Care and then ER with the following symptoms: severe heaviness in whole body causing slow breathing and speech, dry mouth, headache and extreme tiredness. Poison control was called yet neither they nor the hospital had heard of Folate causing these types of symptoms. The severe symptoms got better over the course of 24 hours but lethargy and headache has persisted up to a week.
My Dr. has never heard of severe side effects from Folate in that low of a dose and thinks my symptoms were unrelated. I’m terrified to try it again. Have you seen this in your experience?
Hi Francie,
Trust your gut and do not continue taking the methyl-folate. There are many other mutations besides MTHFR and they all work together to make you feel well or ill. Many times the answer is much more complicated than simply adding methyl-folate
warmly
Dr Jill
Hi,
I am homozygous 1298c and also an overmethylator. My dr won’t treat me for the mthfr because she said it’s not a major concern and she’s more concerned with my over methylation and slowing it down. My homocysteine levels are normal not high. She is dosing me with high amounts of cyanocobalamin and folic acid and everything I read or people I’ve spoken to tell me I should be on activated versions of b12 and folic And that folic acid is dangerous but she’s the only one that insists I don’t touch anything activated or anything like methyl cobalamin or folate because it will just make me overmethylate even more. It’s driving me crazy coz everything else says the opposite. But she is so adamant with what she is telling me and she is one of the top doctors of my state!
What’s right what’s wrong?
Hi Federica,
hmmm… how have you been diagnosed with overmethylation? It’s really a complex problem and no one-size fits all. If you are feeling well and health is improving you are probably on the right track. If you are not feeling well, then consider changing the plan. I usually use hydroxyB12 if patients are not tolerating methyl donors.
Warmly
Dr Jill
Just curious if this is related to MTHFR….
Got on zyrtec 7 years ago and now cannot get off of it. When I wean, my body goes into this major allergic reaction mode….swelling of face, sinus pressure, congestion, etc. So my body is reliant now on the antihistamine. Does this have anything to do with the histamine responses that MTHFR produces?
Hi Deanna,
Poor methylation is one cause of inability to break down histamine and high histamine levels, so is abnormal gut microbes and exposure to mold.
Warmly
Dr Jill
23andme doesn’t give full analysis on MTHFR defects: https://customercare.23andme.com/hc/en-us/articles/202907420-Does-the-23andMe-service-include-analysis-of-the-MTHFR-gene-
Yes, it does and more but it is in raw data form… You will need to run through a 3rd party website to get usable SNP information
Hi, I have a question about supplements to help with depression related to MTHFR mutations. The nurse practitioner I am seeing had me send in a saliva test and I came back positive though I am not sure which kind of mutation I have. She recommended I start taking Ortho Molecular Products’ Methyl CpG supplements. I noticed that you recommend Methyl-Guard Plus from Thorne Research. Can you talk about the differences/similarities between these products and which might be better? Also, do you recommend to take a supplement like Methyl-Guard Plus as well as the 5-MTHF or just one or the other. Thank you!
Hi Rachel,
Most professional supplement companies have a version of methylation support and they are all good but slightly different. Sometimes its a more a matter of trial and error to see which one you do best on. My patients do well on the Thorne Methyl Guard or Xymogen Methyl Protect but I like the Orthomolecular product as well
warmly
Dr Jill
Also, can you recommend a good multivitamin for women that contains folate instead of folic acid? Is it bad to take a multivitamin that contains folic acid at the same time as a product like Methyl-CpG or Methyl-Guard Plus? Thanks!
Hi Rachel,
I prefer Thorne Basic Nutrients 2/day which you can order direct from Thorne with physician code: HCP1004064
so does taking niacin (b3) impair good methylation? when I take niacin (250 mg), I full all over my body, but my wife & kids hardly get any reaction with the same dose.
Hi Gilles,
Even those with MTHFR mutations need the other B vitamins, including niacin. However, if things are not balanced (i.e. you have a deficiency of methyl-folate) then niacin can push things in the wrong direction. What you are describing sounds like a niacin-flush which does not necessary mean that you are having a problem with the niacin on methylation.
warmly
dr Jill
Hi-I really appreciate you taking time to answer questions as our doctors are unfamiliar with this mutation. I am heterozygous for MTHFR C677T (not symtomatic) and my husband is homozygous for A1298C(he is symtomatic and methalfolating)We have 7 children-so fa of those tested 2 are heterzygous for both mutations. One daughter’s doctor is having her take L-methylfolate and B & D vitamins alon with fish oil. My other daughter’s doctor said the information she found indicated no treatment is necessary-is this true? Also could this be the cause of several of my daughter’s Ehlers-Danlos Syndrome and/or Chiari Malformation? Thank You Michelle (also since I feel ok do I need to be treated and should all my kids be tested to prevent their children from having health issues?)
Hi Michelle,
One should never “treat” the genetic mutation as its more a complex interaction between genes + environment. The genetic SNPs are the foundation upon which environmental triggers like gut dysbiosis, toxic exposure, poor diet, etc interact and cause illness or disease. It’s not a bad idea to have your children on the basics, like probiotic, vitamin D, fish oil and perhaps a multi-vitamin with methyl-folate. Genetic mutations, like MTHFR can predispose to development of diseases like the ones you mentioned so they are probably playing a role but not the only cause. Each person presents with a unique combination of genetic SNPs that play a role in their health and MTHFR is not the only one but an important player
warmly
Dr Jill
Dr Jill: Do you have any suggestions for people like me who have several types of headaches, migraines and ice-picks where we have to take Indocin for the ice picks and then something to keep the Indocin from causing too much difficulty with our stomachs, hence some kind of antacid or proton pump inhibitor? At the same time I am trying to keep my folic acid levels high byt taking supplements. I wish I could go off the Indocin and I am currently taking a very small amount 25mgs twice a day but that is as low as I have been able to go in the last 20 years.
Thanks
Hi Betsy,
I recommending a good functional medicine doctor (you may search by zip code at http://www.functionalmedicine.org) and finding the root cause of the headaches instead of treating the symptom.
warmly
Dr. Jill
I went to my doctor and she look at me like i was crazy. She sent me to a blood doctor, that said the only reason a T667C double mutation would be a problem is if i had blood clots or wanted to get pregnant again. My obgyn found the mutation, and sadly cant afford to go to a functional doctor because they dont except insurance. Went back on vitamins the ob told me to take feeling better but no way to test levels because doctor does not understand or belive there is a problem witg having this gene. At a loss….
Hi Stephanie,
As I see it you have two choices. If you are not ill, then you can read and learn yourself about MTHFR gene mutation and it’s effects on health. If you are symptomatic, you owe it to yourself to find a doctor that can help you.
Best in healing
Dr Jill
I have stainless steel cookware, and a cast iron skillet. Do I need to worry about aluminum, as the stainless steel cookware says it has an aluminum core.
Hi Stephanie,
Stainless steel is a reasonable choice and cast iron is great! You can also use ceramic cookware, which is what I prefer.
warmly
Dr Jill
Hi Dr Jill
I have MTHFR C677T & MTHFR A1298C heterozygous and was taking SOLGAR FOLATE 800mcg, B12 and B6 until yesterday
but when I saw my new doctor who is studying about MTHFR suggested to change to 1 x “Methy 1C bioenhanced” instead of all above mentioned. (FOLATE, B12 and 6) because she thinks bioenhanced is much better absorb into body….. do you think same way??
I have been trying to conceive baby for last 4 years and had 3 miscarriage. (I have a son who is 5 yrs old)
I am also trying to have IVF treatment later this year.
I also have ANA (1:640) and my new doctor suggested me to take
N Acetyl Cysteine,
Metagenics Bio Q Absorb,
Metagenics Ultra Flora Restore DF
for treatment for ANA and MTHFR.
Please advise if you agree this treatment.
Thank you, Dr Jill
Hi Tomo,
Better to measure than guess. Have your doctor test these nutrients in serum and also with organic acids in urine to determine your specific individual need
warmly
Dr Jill
Hi Dr. Jill,
I am compound heterozygous for MTHFR and my husband is compound homozygous. We have a 4 week old with reflux and pediatrician has prescribed Zantac for him. Obviously he will have some combination of MTHFR, though we haven’t had him tested yet. I don’t want to deplete his B12 and folic acid at such a young age. I see proton pump inhibitors are not recommended for MTHFR, but what about beta blockers? Would love your input.
Hi Lauren,
You would be best to get a functional medicine doctor to test your gut microbiome and Ig food sensitivities and then do an elimination diet to resolve the reflux by going to root cause instead of using medication as a band-aid. At that age, the microbes in the gut and any immune sensitivities are from your gut and immune system. I recommend you start with elimination the top 7 allergens for 30 days and see how he does: gluten, dairy, egg, soy, corn, peanut, sugar.
Best
Dr Jill
Hello Dr. Jill,
I noticed that you mentioned Prothera…I’ve ordered several products from them and knock on wood have had positive results. However, I’m interested in trying Pure Encapsulations vitamin B products. I’m so afraid of purchasing vitamins over the internet and I don’t know what to look for regarding USP, NSP etc… I’m always thinking these things may be tampered with…just not sure??? Do you have any thoughts on this company, used any of their products and if so, do you have a code for them?
Thank you kindly,
d.
Hi D,
You are right to be concerned especially off vendors, like Amazon where anyone can sell expired product or product that has been sitting in a hot warehouse. You can order Pure Encapsulations from Emerson Ecologics, a professional distributor of the best brands by setting up a patient account. Use code: DrJill and zip: 80027. Any questions, complete instructions are also here
Hello, I’m curious on why you suggest to not take birth control pills if you have the gene mutation, what affects does this have?
Hi Pamela
OCP depletes B vitamins and can stress the system if you are already depleted…
I recently was tested for MTHFR mutation and found out that I am heterozygous for the C677T mutation, but negative for the A1298C
Unfortunately my current doctor does not seem to know what to do (if anything) about it so she is very dismissive and just says it is common and nothing to worry about.
In doing my own research it seems that I should be taking measure to help my body along and to prevent future issues. Can you recommend some place to start? I am not sure if suggested protocols apply to all of the combinations of possible mutations or just certain ones.
For many years now I have visited various doctors to try and get to the bottom of always feeling exhausted/lousy and the only suggestions I ever seem to get from doctors is to take birth control pills and antidepressants. Any suggestions/tips would be greaty appreciated
Hi Lynn,
Find an expert to help you- treatment is not based on your genetics and must be individualized. Search for a doc near you at http://www.functionalmedicine.org
Warmly
Dr Jill
Hi,
I just tested positive for one copy of the C677T and one copy of the A1298C. I’ve been reading your website/blog and trying to figure out where to go from here. My doctor recommended I take Methyl CpG twice a day. My question is (if i’m understanding this correctly) if I inherited one mutated gene from each of my parents, does that mean all of my siblings will also have the double mutation? And will my children have a form of the mutation as well? I had a sister that died of a Brain aneurysm at 43 and I’m curious if this may have had something to do with that? Thank you for all of the information you’ve put out there, this is a bit confusing and your website is by far the easiest to understand.
Hi Michelle,
Thank you for your comments. If each of your parents have one copy then there is a 50% chance that any of your siblings would receive one copy from either parent.
warmly
Dr Jill
Thank you for the quick response! I was curious how common the compound Heterozygous mutation is, do you know? And if you agree with my doctors recommendation of the Methyl CpG?
Dear Dr. Jill
I was diagnosed with the MTHFR C677T homozygous and I also have histamine intolerance. My homocysteine level ist at about 10.5. I need to take B12 (methyl and hydroxo). Does I really also need to take folate? As I have histamine intolerance, I cannot stand it (get headache, sleep disorders).
thank you for all your advice!
Gaby
Hi Gaby
Unfortunately there is no one-size-fits all. I suggest having your doctor test your nutrient levels through urinary organic acids and RBC nutrient levels in serum and treat accordingly
Warmly
Dr Jill
Dear Dr. Jill
im 28 years old male , i was diagnosed since i was 6 years with a g6pd deficiency had 2 blood transfusion since that time everything is okay except depression & anxiety feeling fearful all time
do you think this kind of deficiency is somehow related to MTHFR mutation ? im doing this test but will take me couple of day
can you please advise on my case
being suffering for long time and the medicare in my country is very bad 🙁
thank you so much
looking forward for your kind advise
Hi Sam
Yes, poor methylation can certainly contribute to mood disorders as the methylation pathways are responsible for making neurotransmitters. A clean, organic whole food diet is a good start along with eliminating all processed food, gluten and sugar. In addition, you may want to find a functional medicine doctor to test and treat any occult infections or toxicity.
warmly
Dr Jill
Thank you for great information. I found your site as I am desperately trying to understand our new life with MTHFR C677T. Something I’m trying to understand as I’m currently facing a sick child (MTHFR confirmed with him) with a fever is what do give if the fever gets higher. We are completely avoiding acetaminophen because of the glutathione depletion. Is ibuprofen safe if needed for MTHFR? Like I said, I prefer to let the fever help the body fight, but I don’t know what to do in the case that it becomes higher. Any knowledge on MTHFR and ibuprofen?
Thanks,
Nicole
Hi Nicole,
You might try some natural anti-inflammatories like white willow and curcumin.
warmly
Dr Jill
Dr. Jill,
Thank you for your response. Is there a direct concern with ibuprofen and MTHFR like there is with Tylenol? Also, are things like white willow and curcumin safely used with toddlers?
Thanks,
Nicole
Dr. Jill,
My daughter has a COMT mutation, but no MTHFR mutation. Would your “Ten Tips” also apply to someone with a COMT mutation?
After reading your article, I am especially interested in the recommendation to use a methyl-B12 as opposed to a cyanocobalamin.
Thanks so much for this informative article.
Cindy
Hi Cindy
This article is specifically written about methylation, not COMT. Perhaps I will write one on COMT soon!
Warmly
Dr Jill
I have a 14 year old daughter that is compound heterozygous 677/1298. Psychologically she has been diagnosed with anxiety, major depressive disorder, borderline personality disorder (emerging) and is taking Deplin 15 mg, Wellbutrin 300 mg, Zoloft 100 mg and recently added Ability 2 mg. Physically she has had major digestive issues. Gastorenterologist has found stool calprotectin levels (inflammatory marker) at 900 (high being over 150)h, colonoscopy showed inflammation of colon (1 ulcer, numerous bumps). Biopsy of colon detected enzyme deficiencies for all carbohydrates, lactose sucrose, fructose etc. Endoscopy looked ok but has acid reflux. Hydrogen breath test is scheduled to verify digestive enzyme deficiencies. My questions are: Is there a connection between MTHFR deficiencies and digestive enzyme deficiencies? We have seen so many specialists over the past 3 years (Psychologist, endocrinologist, dermatologist, gastroenterologist). What doctor can put the entire picture together and help me help my daughter? Geneticist? Integrative Medical Specialist? The gastroenterologist knows she’s on the psychological medications (probably caused by MTHFR) and the psychologist is aware of her chronic digestive issues but no one is making the connection or coordinating their findings. I feel that once we have the gastro issues under control, perhaps all the psychological issues and medications can be eliminated. PLEASE HELP!
Sure! …find a good functional medicine doctor. You can search by zip code at http://www.functionalmedicine.org.
best
Dr Jill
Hello Jill,
I was diagnosed with MTHFR mutation homozygous C677T and heterozygous A1298C. I get light headed especially when waking up and also have headaches quite often. We would like to start trying to have children, but I am very confused on the best vitamins to take. According to my doctor he told me to take folic acid, but the more I study the more I find I should be taking the pure form of folate and not taking folic acid.
I also am confused by the B vitamins. There are so many different kinds out there what are the general B12 and B6 vitamins suggested for those with MTHFR mutation?
Thank you so much for your help.
Yes, patients with MTHFR gene mutations should generally not be talking regular folic acid
warmly
Dr Jill
Hi Dr. Jill,
I am a 47 yo female. Three years ago my mother, best friend passed away suddenly. I took it extremely hard. About 4 mos. after that I started having severe vertigo. I now live with vertigo daily. It is not usually spinning but more of a sensation upon moving my head in different directions. I went to neurologists, ent’s, physical and emotional therapies, acupuncture, hypnotherapy, naturopathic Drs, etc. You name it, I’ve done it, seen it or taken it… to no avail. Anyway, I was eventually diagnosed with vestibular migraine. I have suffered from migraines since the age of 16. The most current dr tested me for MTHFR. I came up positive for A1298C and C677T. The dr. recommended I take 5MTHF. I haven’t started it yet so no comment on whether it works for me or not. My question is, do you think this mutation gene could have anything to do with the vertigo. I see you mentioned antihistamine in you blog. I was wondering if somehow my antihistamine could be off and causing the dizziness? Does that even remotely sound possible?
Thank you for your time.
Jackie
Hi Jackie
It could certainly be connected a connection as impaired methylation may make it harder for your body to break down histamine and high histamine can cause many symptoms, including migraine headaches.
Warmly
Dr Jill
Hi again. A few more questions, are we born with this gene? If so, can it lay dormant and not ever present a problem? Can it lay dormant until other elements in our lives bring it to the surface to wreak havoc? Is it always wreaking some level of havoc that we might not realize yet is a problem? Just curious.
Thanks again!
Jackie
The genetic mutation by itself is not enough to cause issues. It’s your genetic foundation + environment (stress, food, chemicals, etc) that make for expression of the genes.
How do you feel about aspirin usage for MTHFR gene mutations? Everyone tells me I should be taking a baby aspirin daily but I am only 31 and therefore concerned about the long-term use of aspirin. Further I have read about rebound effects of stopping aspirin after long-term use and going in to a hypercoagulable state. What are your thoughts?
Hi Kelly
This is something you should discuss with your doctor. There is no one-size-fits all
warmly
Dr. Jill
Hi Dr. Carnahan,
I recently found out that I am Compound Heterozygous for C677t and A1298C. This is all so new to me. There is so much online but it is difficult to understand. I am 36, have a 16yo and 13 yo but had 2 miscarriages in 2014. Can you recommend certain vitamins / supplements? I have seen 3 doctors and they all brush my MTHFR diagnosis off as “nothing to worry about”. It is my assumption that they just don’t know enough about it. I am frustrated because in the past I suffered anxiety so anytime I see my doctor with dizziness / chest pain…she just says it’s anxiety but finding out I have MTHFR I have to wonder if that’s all it is.
Hi Stacy,
I cannot make specific recommendations, as it’s based on you as an individual, not just your MTHFR status (there are 100s of other SNPs that come into play) What I can recommend is adequate sleep, stress reduction, and an unprocessed, whole food, gluten-free, sugar-free organic diet. You may want to consult with a functional medicine doc to help you come up with an individualized plan.
warmly
Dr Jill
I have been told I have 2 gene mutations: MTHFR and COMT. I do not know what type. My doctor has had me start taking 5-mthfr and alpha lipoid acid. I am a little confused. From what I am reading 5-mthfr will cause my body to create more platelets? This scares me because my mother has throbocythemia where her body makes too many. Are these things related? MTHFR and throbocythemia?
Hi Kristy,
There is no connection with methylation and platelets. Even if you have gene mutations, your doctor should still work with you to individualize the recommendations as there is no one-size-fits all. Most important is that you eat a clean, unprocessed organic whole food diet so that you decrease total toxic burden
warmly
Dr Jill
Great info!
After several miscarriages, I was diagnosed compound hetero. Thanks to Lovenox and other supplementation, I now have 2 small children. My son is showing some possible signs of the mutation, but his pediatrician is hesitant to do any testing.
Since I am compound, does this guarantee that both of my children has some form of MTHFR, even if my husband does not?
Also, do you have any recommendations for convincing our MD to order testing?
Thanks for your advice!
Hi Trish,
Your children could receive either or both copies of your MTHFR mutations. If your doctor will not test, you can test yourself through 23andme for $99.
Warmly
Dr Jill
Thanks, Dr. Jill!
So no chance they could have no mutation??
My daughter has EDS, AMPS and MTHFR. Any suggestions?
Yes, Shelly
We don’t treat gene SNPs, but the individual. Find a functional medicine doctor near you to prescribe an individualized plan
warmly
Dr Jill
Dr Jill, I have read that synthetic folic acid can mask a folate deficiency in people with MTHFR. Is there a test that measures the actual level of usable folate in the system? Thank you.
I do not advise folate for patients with MTHFR gene mutations….
Dr Jill, I’m confused. I thought methyl folate (as opposed to synthetic folic acid) was crucial for patients with MTHFR to take and have started taking it myself. I understand you cannot give medical advise through your blog but please consider my situation.
I’ve been severely disabled since 1990 with cognitive, neurological and other impairments. At the time of the major onset, when I thought I had a stroke, I went to the ER of a major medical institution and was told to seek psychiatric treatment, that it was all in my head. I spent the next 10 years steadily deteriorating and in a constant state of emergency. Then in 2000, browsing a self-help book, I read the symptoms for B12 deficiency and realized I had them all. A blood test ensued showing I had a level of 38ng/L of B12. I was put on a cyanocobalamin shot schedule until levels became normal and then on oral B12 for life. I did not get well and kept deteriorating. I’m on Medi-Cal (CA Medicaid) and SSI. To the doctors I see under my insurance, even when I present them with research, my condition is non-existent. They go by their book only. They keep thinking (or saying) it’s psychological. Recently, my adult child, who has better health insurance than I, has been diagnosed with the MTHFR mutation after he experienced persistent, unexplained arrhythmia. This defective gene made sense for me to have in the context of my persistent, debilitating symptoms but I haven’t been able to convince my PCP to request insurance authorization for this test. She thinks knowing I have that gene wouldn’t help. And she certainly wouldn’t be able to help me. It is very likely that the plan that manages my insurance shares that mindset and would not approve the test anyway if requested.
Given my situation, are there any guidelines, beyond the individualized treatment I really need, for what to do and not to do? I thought I would be helping myself by taking methyl folate since the defective gene is responsible for faulty methylation. Is there any hope for someone who has been deteriorating for so many years? I’ve been dedicated to my self-care with nutrition, physical exercise, breathing exercises, meditation and other practices. But I’m sure I make many mistakes. I experience frequent and long periods of exacerbation and I’m only going downhill. I’d appreciate any guidelines or direction you can offer. Thank you very much for your help.
Hi Lia,
Methyl-folate is critical but it’s only one piece of a very complex puzzles and you need the co-factors as well for optimal methylation. There is no protocol so you will need to work with a functional medicine doctor to individualize treatment.
warmly
Dr Jill
Hi Lia,
i agree with Dr Jill that methyl- folate , while being important is only one piece of the puzzle. You might need to look at a very healthy diet, perhaps the GAPS diet that helps to heal the gut. You might also like to look at magnesium. I know that for me this mineral is crucial and it needs to be replete before I take any other supplement. I go downhill very quickly without it. It is involved in over 300 enzyme processes in the body. Check this out online. Do not take magnesium oxide as very poorly absorbed. I hope this helps. Thanks Dr Jill for an amazing site.
Hello, I have a few questions on this I’m hoping you can give some insight on. I have pernicious anemia, and though I haven’t been tested for the Mthfr mutation (yet), it’s been found in my daughter. She has both sets of the mutation. She was tested due to behavior problems (ADHD, ODD and bipolar with psychosis). Her pediatrician believes she is not bipolar but that her manic/bipolar symptoms may be from folate deficiency. I told him that I have P.A., but he was reluctant to test her for B12. He put her on a water soluble folic acid. After some prodding I have convinced him to also test her B12 levels and we’re waiting on results. He ran CBC, red cell folate, serum b12 and hymocystine. When I was diagnosed with deficiency my B12 was low normal but I wasn’t showing anemic yet, so it concerns me with my daughter if it will show up as deficiency, if she has one. I’m wondering, if the hymocystine shows high, will they be able to tell if it’s folate, B12, or both? Also, is b12 supplementation normally suggested with this, regardless?
Sorry for the length of this, and I understand if you can’t answer. I am very concerned about my kiddo and looking for any advice I can get. Thank you for your time.
Hi Carrie
Homocysteine is a sign that something is not going well with the methylation cycle. Most commonly it starts with B12 but could also be folate, B6 or riboflavin. I recommend you supplement all the methyl-factors with something like Xymogen Methyl Protect 1 cap daily (order with code# DrJill and last name) Serum B12 is not a reliable marker for B12 deficiency
warmly
Dr Jill
My family doctor (functional med) ran a series of tests when he first started working with me. They included a few genetic tests. This is when I found out the following:
Statin Myopathy SLCO1B1*5 C/C
Optimal = T/T, Intermediate Risk = T/C, High Risk = C/C
Prothrombin Mutation (G20210A) G/A
Optimal=Non-carrier (G/G); At Risk=(G/A or A/A)
MTHFR (C677T) C/C
Estimated Genotype Frequency:
C/C (~49.3%), C/T (~39.8%), T/T (~10.9%)
MTHFR (A1298C) C/C
Estimated Genotype Frequency:
C/C (~7-12%), A/C (~30%), A/A (~58-63%)
He put me on a very high dose of a B Complex:
Riboflavin (Vitamin B2 USP) 25 mg 1,470%
Vitamin B6 50 mg 2,500%
Folate (as Quatrefolic® (6S)-5- 2,000 mcg 500% Methyltetrahydrofolic acid glucosamine salt)
Vitamin B12 (as Methylcobalamin) 1,000 mcg 16,667%
Betaine (Trimethyl Glycine) 500 mg *
I had a terrible reaction after about a week, with muscle cramps in my neck and shoulders that we unbearable as well as migraine headaches. It was definitely due to the BComplex as these went away when I stopped taking it. But I am reading here that this may be fairly common. So I started scaling back and started low and slow with 250mcg of methylB12, and no folate. I am now up to 500 mcg MB12, and 400 mcg folate and am tolerating it pretty well. I still have muscle weakness, joint pain, tinnitus and exercise intolerance. My homocysteine (last time it was tested) was 7 (which according to reference ranges is optimal). But my inflammation hs-CRP has always measured high. I am trying some Turmeric, but I want to get to the root of the inflammation, but have always suspected it was because I am asthmatic with lots of allergies. Should I continue to climb up the ladder with methyl B12 and Folate? I don’t know if I need more since my homocysteine is normal, but my inflammation is not.
Hi Angela,
Work with your doctor to find underlying cause of inflammation and treat. Just having genetic SNPs is not a cause in and of itself of inflammation. Check for intestinal dysbiosis, toxic exposures and other triggers to inflammation.
best to you
Dr Jill
Thank you. I had read about intestinal dysbiosis, but never been evaluated for it. I will ask about that. Upped my folate dose today by another 200mcg. Made me feel better immediately. I do think the folate is somehow tied to this, just not sure how. Thanks for giving me some more ideas.
Hello Dr. Jill,
I have a couple questions for you. You include dry skin brushing in your tips. I’ve looked at several videos and I’m now kind of confused because there seem to be several methods that people perform in a variety of ways and I have no point of reference to know which one is reliable. Is there one that you recommend and are reliable, uncomplicated instructions available?
My other question is about children with MTHFR. Are there any specific supplements suitable for them or do they take the same ones as adults in lower dosages? My granddaughter, age 12, who has cognitive and neurological problems is likely to have the mutation (others in the family have it) but before we knew that she was vaguely diagnosed with ADHD and then Aspergers, not really fitting either. She’s now in Europe and doctors she has seen have not idea about MTHFR. It seems to me that the condition is progressing because she’s now having eye tics which she never had before. Would it be appropriate to start a low dosage of Methyl-Guard or Xymogen Protect while she’s not getting any meaningful medical support? I’d appreciate your suggestions.
Hi Nana
Unfortunately I have no experience with dry brushing. For children, a basic multivitamin that contains methylcobalamin and methyl-folate would be a good place to start, like Thorne Children’s Basic Nutrients. You can order from Thorne with code: HCP1004064.
Warmly
Dr Jill
Hi! I just found out recently that I am C677T homozygous. It took me 49 years to find this out. I have already had thryoid issues, and all sorts of fibromyalgia pain, IBS, ulcerative colitis (but I think its only IBS) joint pain and my newest pain is from IC which put me in the hospital for weeks before I got diagnosed. Could this have anything to do with the MTHFR? Do you have any recommendations for anyone who has the MTHFR to avoid getting IC? I have two daughters and they roll their eyes when I told them-having a hard time convincing them how real this is. Thank you for all of your blogging. It has helped me so much.
Hi Merry,
Interstitial cystitis is complex but a functional medicine doctor can check your gut health and food allergies to see if there are any triggers for IC. Many patients with IC have SIBO – read more here https://www.jillcarnahan.com/2014/05/16/6-signs-sibo-might-root-cause-ibs/
warmly
Dr Jill
Hi Dr Jill
I just found out that I have MTHFR A1298C homozygous (I dont have C677T). This is after a number of miscarriages and consulting an IVF specialist. As I am nearing the end of my reproductive life we had already decided to use a donor egg before receiving this result.
The clinic have told me that I need to take high levels of folic acid ie 10mg a day but having looked back through some of my old blood files my folic acid levels have shown that my folate levels are always over 20ug/l (ref range 3.5 – 16). These were the levels when I wasn’t supplementing.
If my serum folate is already high and I’m not metabolizing it properly surely it’s crazy to start taking 10mg a day. Could you recommend an alternative version and dose that would be suitable in this case? I just want to make sure that I have decent levels for this pregnancy.
Many thanks
Clara
Hi Clara,
For pregnant patients, I recommend Thorne 5MTHF 5mg, which you can order direct from manufacturer by setting up patient account and using code HCP1004064.
best
Dr Jill
Hi Dr Jill
Thanks for your last reply. You also mention methyl B12 and liposomal or acetyl-glutathione. Should I also be taking these before the donor egg cycle (and during it if I get pregnant)? (I’m MTHFR A1298A Homozygous)
I am in Ireland, there seems to be little knowledge about MTHFR here. The GP and pharmacist said that I should take 10mg of Folic Acid a day but isn’t it the case that I am not supposed to take Folic Acid? Could you confirm this?
There is no prescription methyl folate or otherwise in this country either!
Many thanks
Clara
I have been tested and I have both mthfr gene mutations plus factor 5 lyden. I am currently taking folate and methyl b12. I am a professional figure bodybuilder and am still having problems with my metabolism, and other side affects of the mutation. I eat very clean for my career as well. I was just curious if you recommend me taking any other supplements that may help with this.
Hi Ashley
It really depends. I always treat the individual as there are no protocols. You could get organic acid testing to determine any other deficiencies and then treat them.
warmly
Dr Jill
Hi Dr. Jill,
I had a ( termination of pregnancy ) on July of 2015 after having several sever bleedings due to a clot seen under the baby sac. i was 16 weeks when the doctor saw that the sac no longer exists and the baby wont be able to live after birth that is why they terminated the pregnancy ! from the blood tests , i realized I am homozygous MTFHR a1298c. I have a 4 year old daughter with a healthy pregnancy!
i need to know what risks will I be having and what should I do pre-pregnancy to make sure I have a healthy pregnancy. Also My doctor advised me to wait 3 months and take ( B6, VITAMIN C, folic Acid 5mg , iron and baby aspirin ) daily. He also told me that once i know i am pregnant that i have to take daily shots to prevent blood clots.
I am so scared to get pregnant again and go through what I have been through! it was a really bad time for me!
Thanks,
Ferial
Hi Ferial,
I am so sorry to hear what you have gone through. Unfortunately I cannot give you medical advice online. I suggest finding a functional medicine trained doctor to help you navigate and have a safe healthy pregnancy in future. Just because you have a miscarriage does not mean you will not have future healthy pregnancies.
Best
Dr Jill
Thank you so much for your quick reply!
I wanted to ask if being homozygous MTFHR a1298c is the worst case of all other genes! Or is it not that scary?
Hi Ferial… I don’t see it often but having 2 abnormal copies of C677T and A1298C would be the worst case. And the C677T is more clinically relevant in terms of symptoms than the A1298C.
Oh i see! Good to know! I am glad that i dont have the worst case then! Thank god!
can you please tell me if i need folic acid or folate when i get pregnant again! And can i get it from food or supplements? Also is there any way i can fix this blood clotting disorder in my body! Or is it always going to be there?
THANK YOU
Hi Dr. Jill,
I have C677T homozygote MTHFR deficiency and I’m currently 5 weeks pregnant. I’ve been taking Solgar Folate (as metafolin) 800 mcg 3x/day plus New Chapter Perfect Prenatal Multi-vitamin (which contains 600mcg of folate (as folic acid) in a daily dose. I’m concerned this may be too much folate – -though I haven’t noticed any adverse effects. Can taking too much folate be harmful to me or my baby?
Thank you,
Nat
Too much or too little can be a issue. Please consult with your doctor. What you are taking appears to be appropriate
My MTHFR (A1298C) measures A/C (~30%). My results said I was at Intermediate risk. I have not been able to get the results interpreted. Can you tell me if this means I am methylating too much or too little, or if you can read any additional info from this result?
Thank you!
you need to check with lab if you have one or two abnormal copies of A1298C
I have the MTHFR C677T Homogenous. I am on Zoloft for OCD for 6 years, which incidentally have been a life-changer (I know SSRI’s get a bad rap). I do eat a lot of processed foods and have low stomach acid. I take a good probiotic and whole food multi with Folate and all the B’s. Wondering if I should just start taking B’s separately to see how I feel and maybe just take kelp or something to get other vitamins? Any suggestions? I also purchased some methlyfolate and the good kind of B12.
Don’t take vitamins until you clean up your diet 😉
Michael, I discovered that I am also C677t homozygous. I am very successful and active, but I had struggled with some weird form of “depression” intermittently over years–somewhat of a physical depression, as I always remained very interested in the world. I discovered that a very small amount of welbutrin works very well for me, about 18-20mg a day. That dose would make any doctor laugh, but–for us–it is necessary ONLY to supplement the serotonin very slightly and very consistently. The point is, don’t overdo the dosage, see if you can get down to a minimal dose. Good luck! The methylfolate and b12 protocol is excellent!
i m omozygous mtfr and homozygous comt, i i read that in that case best form if b12 to use is hydrocobalamin, but i wonder what form of folic acid should be used?
Hi George
There is no one-size-fits all or protocol. Work with your doctor to individualize treatment and use active forms of the B vitamins…
Warmly
Dr. Jill
Hi Dr Jill,
I have a history of extreme B12 deficiency that went undiagnosed and untreated for over a decade. My adult son was recently diagnosed with MTHFR 677TT and 1298AA variants. In view of my history and continued symptoms I asked my PCP to order a MTHFR test for me and she declined. When I insisted, she said she would consult with the “genetics team.” Three months later the genetics team said that “in light of your normal homocyteine and methionine levels an abnormality in MTHFR function is not likely and MTHFR testing need not be performed.”
Does this seem the correct position to you? They said there is no use in having that diagnosis.
Thanks for your help.
hi dr. im hetero c677t …im trying to get pregnant …i use solgar folate (metafoline) 2mg /day and methylcombalamine 5000 mg every other day…is the dose of metafolin is enough or i need to increase ..
thx
My mother found out she is heterogeneous for the A1298C gene mutation. Does that mean she passed that down to me and her other children?
Hi Lauren
If she has 1 copy there is a 50/50 shot that you or your siblings got it, unless your father has MTHFR mutations.
Warmly
Dr Jill
Hi Dr. Jill,
I am writing you from Kansas. From what I have read I may have the worst case. Correct me if I am wrong but I am heterogeneous for two mutations C677T & A1298C. I have had two miscarriages and have just ordered a prenatal vitamin. All I have every wanted was to be a Mom. I have had trouble getting pregnant but am hopeful in conceiving again soon. I am currently taking a baby aspirin daily. Doctor wants to put me on Lovenox twice a day while pregnant. What are your thoughts?
Thanks, Lindsay
Hi Lindsay, Without knowing your history I cannot give you medical advice but I would discuss with your physician as you certainly wouldn’t want to increase your risk of another miscarriage.
warmly
Dr Jill
Hi Jill, I am ++ MTHFR with a homocysteine level of 12. I’m kinda anxious about this because I have been taking Homocysteine Factors for the past month and it’s giving me symptoms of breast tenderness, muscle & joint pain, weird chest pressure and and slight headache. I want to get my homocystrine down asap, should I keep going on this supplement and wait for symptoms to subside or back off? It’s so frustrating!
Hi Jennifer
Stop the supplement if you are having side effects.
warmly
Dr Jill
I have heterogeneous c677T. I was given ortho methyl b12. This has folate as quatrefolic 6a 5 methyltetrahydrofolic acid. My folate levels are through the rough higher than 19.9. Is this helping or hurting me since it has folic acid part of the ingredient?
Hi dr. Jil
I discover that I have MTHFR gene mutation heterogenous after miscarriage my doctor advice me to take folic acid 1500 mg per day
And one tablet aspirin every day . Is folic acid is fine to take because I read in all website that it’s not advisable for such case and if it’s true what should I take?? Because I am planing to have a baby
Hi Nahla,
Please consult with your physician as I cannot give you medical advice online. Most patients with MTFHR mutations would do better on the methyl-folate.
warmly
Dr Jill
Curious about why you would limit your intake ofmethionine-rich foods especially the healthy ones like avocado, nuts, etc.?
Hi Kim
There is no one-size fits all… it depends on the individual
warmly
Dr Jill
Hi Dr Jill
My son – 19 years was diagnostic with the genetic error in MTHFR C677T (CT) and A1298C (AC) – Heterozygous last week. He has high level of the homocysteine ( 18 ) . He drinks a lot ( 5-6 lit. of water daily ) , but he did not have any other serious problems. Please what do you can recommend to him to lower homocysteine level and to be well again. We are living in Europe, Czech Republic. Thank you very much.
Hi Jaro, There is no one-size fits all but you could start with a basic B vitamin with active methyl-folate and methyl-B12
warmly
Dr Jill
Hey,
Thanks for the article and your insights.
Im wondering if you have ever come across patients on methyl-b12 that develop severely low magnesium and potassium symptoms ?
This seems to be a stumbling block in taking these methyl-supplements for many indivduals.
I have not seen a direct relation with methyl-B12 and low magnesium or potassium…
Hi Natural Health blogger
I know from my own body that unless I am replete with magnesium I cannot tolerate any supplement.
Hi Jill
I have the double mutation on the C677T and also a comt snp where green tea and coffee slow it down. I eat a healthy diet and also take thorne b complex 12 but I wondered if they may be too high for me as I saw your comment on people with a comt snp may find these hard to process I am going through menopause and get anxiety. I wanted to know if I take a whole food multi vitamin would this be enough to help me methylate without the added b supplement as the whole food multi has folate and the b vitamins in.
regards Linda
Hi Linda,
There is no one size fits all but most patients with double mutations in MTHFR need at least a milligram daily of methyl-folate.
warmly
Dr Jill
HI Dr Jill,
I hope you are well. I just found out that I am homozygous for the MTHFR C677T variant (2 copies). I had a healthy baby 6 months ago but am now worried about any affects on him since I wasn’t aware of this when I was pregnant. What would you advise as to steps I should take in regards to him? Thank you so much. Lindsay
Hi Lindsay,
Best to consult with your doctor but it wouldn’t hurt to be on a prenatal that has 400-800mcg of methyl-folate while breast feeding. I like Thorne Basic Prenatal, which you can order from Thorne.com using code: HCP1004064
warmly
Dr Jill
Hi Dr. Jill,
Does having 677TT genotype mean that each parent provided a copy of the same defective gene? Thank you!
Hi, I have MTHFR mutation C677T heterogyneous, as does my son. We started taking Deplin to help us out. His rashes, mood swings, erratic decision making and depression symptoms have disappeared. I have been on Deplin for 2 weeks and have more energy, I feel lighter and sleep well. I also miscarried in 2001, and now am reading this gene mutation may have very well been the culprit. Just jotting this all down in case it would help anyone. Thank you for opening the blog for open forum comments. We don’t take any extra folic acid, as we are counting on the Deplin to help our body process the folic acid from foods better. We take this in care of a Psychiatrist, and as research is incomplete regarding Deplin, he is somewhat skeptical that it is actually helping. I’m just letting you all know that it does indeed help. I’ve heard of other two cases of severely depressed people who had this same gene (or similar) – their test showed the had poor folic acid conversion – , after taking Deplin it was like a light switch had been turned on. As I understand Deplin helps our bodies process folic acid better.
Hi Ms. Jill.
I just learned a little about the MTHFR gene.
Alot side effects sound familiar amoung me and my almost 4 year old. And I also have a 3 month old. I’m going to have them both tested ASAP for this gene. But I’m really worried cuz my 3 year old was diagnosed with stage 3 liver cancer called hypotblastoma when he was 2 and was told by Dr it was genetically. So I’m just wondering do you think this could be the gene that caused it? Can MTHFR cause liver cancer?could you please email me at the email given below please and thank you. I’m just worried about the effects if my 3 does have this and very worried about my 3 month old. I’m wondering weither he should receive anymore vaccinarions. I’ve read a lot about MTHFR gene and vaccinations and I’m scared to death to continue his. Please email me!
Dear Tabitha,
The gene doesn’t “cause” anything… just predisposes patients to poor methylation
warmly
Dr Jill
Hello Dr. Jill,
I believe you mentioned somewhere a lab that performs drug allergy testing, but I can’t find that thread or perhaps I’m mistaken. Could you please recommend an online lab that performs this test? Thank you very much.
Hi Stacey,
Could you please tell us the name of the doctor in Mariland? I ive there but I coud not fnd one for this issue.
many thansk and happy for you
Leo
Hi Leo
You may search by zip code at http://www.functionalmedicine.org
warmly
Dr Jill
Hi Dr. Jill,
I have been suffering from chronic gastritis for 3 years which was brought on by a cortisone shot. I have had every test and been on every antacid/PPI in the book. I recently saw a functional medicine doctor who diagnosed me with heterozygous c677t mutation and dairy intolerance. I cut dairy and have been taking a supplement with active folate, b12, etc. for a month now but am still suffering from the gastritis. My question is- is it possible that my gastritis won’t heal because of the MTHFR? Would that be why a cortisone shot caused it? Will the supplementation bring healing and if so, how long until I start feeling better?
Please help. I am absolutely desperate. Please don’t suggest I see a holistic doctor because I’ve seen 11 doctors and specialists and no one has helped. Any answers you can give would be Very much appreciated.
Hi Krystal
MTHFR is unlikely to affect healing of gastritis.w
Warmly
Dr Jill
I just called 23andme and they do not offer a test for MTHFR. Why are you saying to order the kit to be tested for it if they don’t offer it?
Yes, the do test for MTHFR. But you’ll need a third part to give you interpretation, like genetic genie
Hello Dr Jill,
Thank you for all your insights with regards to MTHFR. After learning I have homozygous FVL, my hematologist did a slew of other clotting genetic variant tests to find that I am also heterozygous c677T – Yey! To boot I also have beta thalessemia trait and MS.
So here is the real question – I’ve been fortunate enough to not test B12 or folate deficient. I did have a methylmalonic acid test come back too high (which seems to contradict the B12 findings). Should I be concerned about the fortification of vitamins/minerals in foods; might they be exacerbating my MS?
When I bring this up with any of my doctors presently it’s like I’m talking to an audience of crickets.
I look forward to your insights.
Hi Jeannette,
Serum B12 is not an accurate measure of intracellular B12. If your methylmalonic acid is abnormal you are deficient in B12 and I would supplement in that case with IM or sublingual methylcobalamin
warmly
Dr Jill
I am homozygous for C677T and I can’t tolerate methylfolate. I was wondering where do I go from here. You say not to take folic acid and I can’t tolerate methylfolate. Any advice is appreciated.
Hi Nikhol
Methyl-folate is not a magic solution to those with MTHFR mutations. Many patients find when they rev up methylation they cannot deal with the toxins it may mobilize. It’s quite complex and you should work with a doctor to help you. There is no “protocol” – I treat patients by testing for deficiencies and treating everyone individually.
warmly
Dr Jill
Hi Dr. Jill,
I have treatment resistant depression for about three years and have tried many many medications with nothing working or not working longer than one month. My psychiatrist had me do the mthfr test and I am homozygous for the A1298C variant. Since then I have been taking Deplin at 30mg because lower doses didn’t work and this has done nothing either. Is that abnormal that it did nothing for my depression even though I have the mutation? Currently I take it with lexapro, lamictal, and a very low dose of lithium all for the depression, I’m not bipolar. I’m switching from lexapro to something else after the bar exam this month. Do you think I should continue to take the Deplin when I switch off the lexapro and possibly onto a tricyclic in hopes that it enhances it?
Thank you so much.
Hi Melanie
Unfortunately, I cannot give you medical advice online – best to discuss with your doctor.
warmly
Dr. Jill
Hi Doc…Can u explain a little about niacin, which you said can dampen methylation(Meaning?).Does the amount matter…I take 1000mg for high ldl-p particles and elevated apo-b and I take 1000 mg b12 sub lingual and 800 mg of methl folate. Thanks Vince
Dr Carnahan I have both the 1298 and 677 mutations. I had papillary carcinoma of the thyroid, leading to thyroidectomy 14 years ago. I have had lymes disease about 15 years ago, and have had the unfortunate luck of EBV 4 times in 5 years… And a couple rounds of shingles. My asthma and allergies are frequently out of control. I cannot seem to get my energy back. I work full time, have 2 kids in college and am a helper to my 89 yr old grandmother who lives with me. I could use some wellness and energy. Could you recommend supplements? Infectious disease thinks my depressed immune system is due to the mthfr. The physician I work for believes I am a prime target for lymphoma. My nearest integrated specialist is by $2k retainer only and must review you to accept your case, and is 3 hours away. I’d really appreciate your supplement recommendations. Also, What do you think of infrared sauna and Epsom salt soaks?
Hi Michelle,
You might try searching for functional medicine specialists at http://www.functionalmedicine.com. I cannot give medical advice without a physician-patient relationship.
Best to you!
Warmly
Dr Jill
Hei Dr Jill,
I was diagnosed with homozygous for the MTHFR C677T variant (2 copies) after one early miscarriage in 6 weeks. One g I’m in the second pregnancy now, week 30. I’m on Methylfolate (3400mcg), P5P (50mg), B12 (1000mcg) – daily from 2 months before pregnancy. I’m taking DHA, choline, D3 and other commonly vitamins additionally. I have also low level of protein S, that’s why I’m on baby aspirin 75mg and heparine 0,4ml. I’m feeling very well and it’s OK with baby according to my doctors. I’m planning to breastfeed my baby until 6 months old and I’m wondering should I stop with suplements in this period or should I take lower dose of them to protect my baby from the negativ effects of my mutation , like autism etc. I look forward to your insights.
Thanks,
Isabel
Hi Isabel,
I can’t give you specific medical advice without a patient-physician relation ship. Best to discuss with your doctor and proceed accordingly.w
Warmly
Dr Jill
Dear Mr Jill
I have been diagnosed with Heteroxygous MTHFR A1298C mutation (single copy) after having a still birth 10 years ago. In the mean time I gave birth by c-section to 2 healthy baby boys. I was now looking at the possibility of having an abdominoplasty. What are the risks of having complications?
Thanks
Debbie
Hi Deborah
Best to discuss with your physician
warmly
Dr Jill
I have just been diagnosed with interstitial cystitis. I also have the MTHFR gene mutation. Can you recommend a Vitamin b-12 that will be easy on my bladder. I was taking a b complex vitamin by Pure…and it put me in a major flare! Maybe a child’s dose would help?!! Any advice would be so appreciated!
Hi Jane, you might try a sublingual version and nibble off a bit to start.
Hello Dr. Carnahan, I am so glad that I have found your website as I have been dealing with recurring idiopathic angioedema episodes for the last six years. I have tested positive for the mthfr gene with the t/t combination. I have been to numerous allergy specialists, including top academics in the field and no one has suggested that this gene mutation could explain the cause of the angioedema. However, reading your article, the comment about this gene mutation possibly hindering the breakdown of histamines jumped off the page at me. Do you think this is something I should pursue as a possible missing link in trying to get control of this condition? FYI, my homocysteine levels are normal at 10 umol/L. I am a 72 year old male
MTHFR gene mutations do contribute to histamine issues in many people… but other things like mold/mycotoxin exposures destabilize mast cells and create histamine issues as well. More here.
Thanks, Dr. Jill! I think you are right. I have the Mthfr mutation that promotes poor histamine health, but I think I have a fungal/mold issue as well, because while I was on turbinifine for three months I had almost no angioedema episodes. I was wondering if you take any patients on a long-distance basis since I am located in Central Florida? Could I schedule a phone appointment with you to discuss possibilities? Thanks, Al
Hi Dr. Jill,
What/Who do you recommend one see/do, if there are not the means to see a Functional/Integrative MD unless they accept Medicare, but can’t find someone that treats genetic mutation that does take medicare. I can see any type of MD that takes Medicare. So who would be best, endocrinologist, Neurologist, or? Who can best get to the bottom of if there is a mutation, what type is it, & what I should take to best deal with it. I’m in Los Angeles. So far I just have a standard? blood test that shows, high homocsytine, low folate, high beta, high ESR, Low B12, High MCV, High ROW, high Beso%, High Beso absolute, high CEA, & the low end of high LDL’s & Tri’s. I am so over whelmed with trying to figure things out on my own. I also have Crohn’s & I believe Fibro based on symptoms, along with a spinal disc injury on multiple discs. My main concern is fixing chemical imbalance such as neurotransmitters, by finding out first which type of Genetic mutation there is and healing leaky gut, that I think will clear up many health issues. I just don’t know where to start, and what type of Dr. to start with that accepts medicare. I try to eat only organic, but on a fixed it is very difficult, I eat alot of organic chicken w/veg soup. Is there a Genetic Test that’s covered by medicare that I can have the results interpreted by someone that accepts medicare? thank you so much for any advice.
Hi Stacey
You often get what you pay for in our broken medical system… find a functional medicine expert who can take time to get to know you and help navigate the finer details of your health, including genetics.
Warmly
Dr Jill
Hi Dr. Jill-
I am wondering the best supplement approach for homozygous MTHFR C677T, along with homozygous COMT V158M (and homozygous CBS A360A). Dealing with some depressive/stress issues.
Thanks!
There is no protocol, treatment must be individualized and we don’t directly treat SNPs.
Hello, I have a couple questions. My daughter doesn’t eat the healthiest diet (we’re working on this). She is having lots of nutritional deficiencies, and it’s easier for her to eat fortified cereal even though it’s not the healthiest than take a multivitamin supplement. Recently she started eating Total cereal which they say is a multivitamin and I noticed she has slightly more energy, she has color coming back to her cheeks, and we might be seeing a slight improvement in her hair loss (I’m not 100% sure on that one). She has bad anxiety though and this could be all this is, but she’s worried that the cereal could be harming her and she says she doesn’t feel right at times and she’s worried about some of the mental effects she might possibly be feeling from this. So then I started to worry about the MTHFR gene. She hasn’t been tested for it but I’m worried that could be what’s going on. The cereal has 100% folic acid but at the same time, she’s had other cereals with folic acid before with no problem. Is it possible it could be the gene causing this or just her anxiety and worry over it combined with the fact that it’s a multi which is going to make someone feel a little different? Thank you.
I do not recommend conventional cereal for anyone – it is loaded with GMO grains and glyphosate and a toxic burden to the system. Instead try Steel cut oats or grain-free organic options
warmly
Dr Jill
And if the cereal is affecting her, will the symptoms she’s feeling go away once she stops eating it?
I find this fascinating. thank you for the big picture guidance. I wonder if when you say exercise – do you mean “gentle exercise”? I ask because you list it under the heading of gentle detox? I understand what is gentle for one person could be heroic for another….but at some point intervals are designed to be intense 🙂 My guess would be as a general rule that those starting their MTHFR journey probably should not be doing intervals but if you are in a well supported state you probably could. this would maybe have implications for fitness trainers who often like to use intervals to jump start.
Great information. I consider myself an expert in the field of MTHFR and I’m looking to connect and discuss this topic more with other experts in the field.
Thank you,
Dr. Stephen Smith
So glad I found your article. It is straight forward and an easy guide. I’m new to the MTHFR, just finding out I have this. I’m hetero. My nurse practitioner checked to see if I had this genetic defect because of constant elevated b12 around 900 to 1200. My new blood work shows my methylmalonic acid being 80 with a range of 87-318. My folic acid is 15.7 with normal being >5.4. My homocysteine is 10.5. Normal being <10.4. So I don't know if I need to start with a small amount of methyl folate in a multi vitamin along with the methyl b12 and just switch those two forms. I've always taken regular whole food vitamins but no methyl folate or methyl b12. Just the synthetic forms. But with high b12, I am afraid to take large doses of it or methyl folate. I want to address the slightly high homocystine level, too. Will methyl folate and methyl b12 help decrease homocystine? I have to be careful with some herbs in my vitamins like ashwaganda and also alpha lipoic acid because I understand they interfere with my Synthroid medication. I had thyroid cancer and had my thyroid removed. So I am thinking start slow with a multi vitamin with the methyl folate and methyl b12. See how it goes. Do I always continue taking this multi vitamin if it works for me or must I be concerned with the methyl folate. I'm taking a multi suggested in your article. Thank you for you time. It's greatly appreciated.
Hi SuppsLife,
Usually Methylated B vitamins will lower homocysteine but you must individualize the plan for you. I suggest checking urine or serum MMA as a more accurate marker of B12 status. Serum B12 can be deceptive if its not getting into the cells, it will remain high even if you are deficient.
warmly
Dr Jill
Dr. Jill, thank you for the wealth of information! I have small fiber neuropathy for which my neurologist wants me to take a medical food containing 2.5 mg methyltetrahydrofolate among other things. My endocrinologist wants me to supplement for iodine deficiency for which I also have. I also recently found after Spectracell testing that I have a heterozygous 6977CT mutation, borderline deficiences of Micronutrient testing for Pantothenate (Vit B5), Carnitine, Total Antioxidant Function, Immunidex. On top of everything else I have a connective tissue disorder and may possibly have a malabsorption issue. I know I need to be taking something….just not sure what that something(s) is but just have hesitated beginning the medical food containing the methyltetrahydrofolate (and is this the same thing as methylfolate?) with some of these other things. Any advice is appreciated!
Best to start with low doses first to see how you tolerate it.
Thanks, will you updated! 🙂
Hi Dr. Jill, I’ve been taking Methyl Guard Plus (but only one pill…dosage is 3 pills) for a few years now. I have noticed that my tendons were feeling twitchy so I decided to stop taking it to see if would make a difference (as I read that can sometimes be a side effect) and have been off of it for 5 days now and my tendons feel a bit better, but now I feel like I am having anxiety attacks. Could this be from stopping the Methyl Guard cold turkey? Any concerns with just stopping it all together? I was diagnosed with the MTHFR gene mutation back in 2012 after a back reaction to CIPRO. Thanks for your help!
Hi Megan,
Over-methylation can cause twitching or muscle spasm. I suggest stopping entirely or taking 1 cap only 1-2X weekly
Warmly
Dr Jill
Great, thank you for your advice!!
The other question I had is, could stopping the methyl guard cold turkey attribute to anxiety attacks? Or maybe I am just over thinking and stressing about everything these days. 🙂
I’d like to respectfully disagree with Jill.
The cause of your tendon problems could be due to the high level of B6 in MethylGuard. Many who take methylfolate experience a REDUCTION in twitching. But if you google B6 toxicity, you’ll pull up many, many people with serious neurological problems from just tiny doses of B6.
Hello Dr. Jill,
I am 14 wks pregnant and had to have a chromosome test. I just found out I have MTHFR- (C677T) AND (A1298C). I am wondering what are the steps that i need to take to better my health. The Dr. told me that my body cant break down folic acid. I need to loose weight after the baby and take better care of myself. I just want to know if I cant break down folic acid. Do I stay away from foods rich in folic acid. That is everything that is good for me. Kind of confused on how I am suppose to be healthy if those foods will hurt me. I am on folic acid right now and asprin for the baby. Will this harm me. Please inform me on what to do. Feeling worried
Hi Victoria
you may eat folate rich foods freely! Synthetic folic acid added to processed foods is the problem, not real food.
Warmly
Dr Jill
Hi Dr. Jill,
My 6 year old son lost hearing in his left ear 10 months ago. We’ve been doing the blood work and he has decreased activity on the MTHFR A1298C and decreased activity on both sides of the COMT chromosome 22.11q. We will get his food sensitivity results back soon but could the hearing loss be from his genetics? Or do you think it has to do with inflammation from food sensitivities plus he’s inability to detox and methylate?
Have you heard of hearing loss related to this? I’m hopeful that he might regain some hearing after we take away foods he’s sensitive to but just trying to see if there are any similar stories with a positive ending, 🙂
Stressed mama
Hi Katie,
The hearing loss is not usual but worth looking at all abnormalities to see if you might reverse it. There are many chemicals and drugs that can cause toxicity.
warmly
Dr Jill
I was diagnosed with MTHFR homozygous c677t when we were trying to get pregnant. The docs put me on low dose aspirin and foltex for the rest of my life. I have since traded the foltex for over the counter methyl versions and am taking care of myself as the docs around here don’t know much about MTHFR. But there is some question as to if the aspirin is aggravating my asthma since its gotten worse the last few years after being on aspirin. My doctor doesn’t dare tell me to stop since a hematologist put me on it. Is it mandatory for MTHFR homozygous c677t people to take aspirin?? Or can we safely not take aspirin? I hate dealing with my asthma but don’t want to increase my risk of clots/strokes, etc. but no one seems to know much about MTHFR where I am from.
Hi Brenda
This is best to talk to your doctor about. There is nothing about having MTHFR that requires mandatory aspirin usage. Better to correct the underlying issues with methylation factors and diet
warmly
Dr Jill
Excellent short and sweet post, Dr Jill. Most people forget about the TMG / Betaine so I’m glad that you pointed that out. Also, when people get their 23andme testing done, they will need to take their raw data and have a 3rd party site interpret it. The site that I used ( a free one) is geneticgenie. It might be helpful to add this to your tips section. I know of a few more, but don’t want to clog up the comment space 🙂 Take care!
Dr. Jill,
I have an extremely ill nonverbal 21 year old that has low CFD and being treated with Leucovorin. It helped the first few months dramatically but stopped. My daughter’s seizures are horrific, she has lost all volitional movement of her body. She has kidney issues (RTA), common variable immune deficiency , a failed colon and extreme fatigue. Traditional medicine has totally given up on her! She is a complex, medically fragile young lady. Her genetic complete exome sequencing testing showed no issue that explains her condition.
We live outside of Dallas, Texas and are looking for a functional medicine doctor that would be wiling and able to help us with my daughter. Wish she was stable enough to travel, but she is not. Any suggestions for such a severe case?
Thank you for all you do and your dedication to all.
Hi Karen
You might try searching near you at http://www.functionalmedicine.org – I know some great docs near Austin, TX
warmly
Dr Jill
Hello Dr. Jill. I can see your article is alive and well and still gets lots of attention! Great! I was wondering whether 23andme still does genetic profile on MTHFR. I have reached out to customer service and someone not too knowledgeable said that they don’t. Then I go and read ppl’s feedback and articles like the one above asserting that MTHFR results are included in their testing. I wonder whether you or anyone here knows whether it is true or not.
Thank you!
yes, you can take the raw data and get methylation SNPs through 3rd parties like http://www.strategene.org
Would MTHFR 677 A/A be the same as 677 T/T?
Jill I need help – my 23 yr old was diagnosed bipolar, has CFS, brain fog and even went into Psychosis 2x this year after 3 days of no sleep – his report shows Yellow for MTHFR C677T and RED for MTRRA66G and RED for SHMT1 C1420T also yellow is MTRA2756G and BHMT02 – where do I even begin to get him better???
Hi Laurie
You may want to consult with a functional medicine trained physician (www.ifm.org) or someone trained at Seeking Health with genetic SNPs
warmly
Dr Jill
I have the c677t mutation with high homocysteine levels. Will all this work for me as well? Thank you
Hi April – best to discuss treatment options with your doctor.
warmly
Dr Jill
Dr. Jill,
I recently found out after my 2nd loss and nearly hemorrhaging I am homozygous for A1298C . I have also been anemic off and on prior to becoming pregnant I’m believing do to heavy periods. ( struggled with unexplained infertility) my homocysteine levels were normal but pronthrombin Time was high.
My doctor is not familiar with MTHFR and referred me to a perinatal high risk OB.
He prescribed me FOLTX ( folacin 2.5mg -pyridoxine b6 25mg – cyanocobalamin 2mg) to be taken twice a day along with 1 81mg aspirin. Once heartbeat I will then start lovenox. My concern was that I believe FOLTX is synthetic. Insurance doesn’t cover so he said I could create my own concoction however insuring I get the same formula and dosage. My concern is if this dose is too high and will cause adverse reactions.
Hi Amnesty,
You may try something like Xymogen Methyl Protect or Thorne Methyl Guard Plus
warmly
Dr Jill
Thank you sooo much for your speedy reply and for everything you do !!!
Hello,
I am homozygous for MTHFR, some extent of Lyme and related co-infections and hashimotos. Recently I have noticed my lymph nodes are really sore after drinking alcohol. Not just one drink, like after a special occasion or celebration where I’ve had multiple. Do you think this has to do with sluggish detox precesses or could be indicative of something more serious? I’ve read that is a red flag for lymphoma
Hi Mary – you should discuss this with your doctor to rule out anything serious
Hi Dr. Jill,
I just found your website and am confused. First, I had a 23 and me workup done in January, 2018, and it does not show a test for the MTHFR mutation. When I called, the person I spoke with told me that they did not test for that mutation?? Also, in reading your original article, You say that SAMe would be helpful, but then you say no to get too much methionine. That is the ingredient in SAMe. Is that a different type of methionine? I tried half the recomended dose of SAMe a year ago and after a few days, my heart went into a serious arrhythmia-something it is prone to do with certain supplements, including the B vitamins.
Thank you for your article and your reply
I have learned so much! I have a single mutations A1298C, and B levels are lOW. What site or type of B and D supplements are complimentary to my situation? I already take Cerefolin and Deplin. I don’t feel the deplin even helps but 2 days without cerefolin and a crash is inevitable. Thank you so, so very much!
Recommend a methyl-B complex and D3 2000-5000IU daily
About three months ago I started to take Niacinamide supplements in a high dosage of 1000 mg a day.
I took it as I thought I had a bcc skin lesion (it wasn’t) and I read it may help avoiding bcc lesions.
I stop taking it about one month ago after I developed very bad symptoms of diarrhea , losing weight and abdominal pains.
So I believe I took it for about two months.
One week ago I was tested and found for MTHFR mutations 677C>T and I understand this (Niacinamide ) could affect seriously the methylation process. In blood test b12 was low and folic acid was low. I’m taking now b12 and folate and vitamin d (Vitamin d I’m taking on a regular basis 2000 and blood test was ok).
I believe this was the reason for my severe symptoms (compare to my usual bad digestion symptoms as I have also celiac).
My symptoms are getting better during this month but still not fully over.
Could you please let me know what do you think ? what permanent damage I might did ? what can I do now to make things better ?
I am 25 and a recent test said I was heterozygous for the MTHFR C677T. My homocysteine levels and B12 both are normal (optimal range). I have pretty severe anxiety and depression. I eat a very clean diet (gluten, dairy free etc). I was told to take Thorne B-Complex #12. Would you agree with this? Or do you recommend any other supplement? I read online B12 and biotin can cause or flair acne…is this true?
Hi Mike
That would be fine
warmly
Dr Jill
HI DR,
IAM SORRY MY ENGLISH IS NOT SO GOOD.
I HAVE A SON IS 6 YEARS OLD AND HE IS DIAGNOSE WITH AUTISM IN 3 YEARS OLD.IAMFROM GREECE.HERE DOCTORS DOESNT KNOWS SO MUTCH THINKS.A DOCTOR OF ANOTHER COUNTRY TOLD ME TO DO TEST TO HIM FOR MTHFR.HERE THE LABRATORIES FOR MTHFR ARE NOT A LOT.I FIND ONE.I DO THE TEST TO HIM AND HE HAVE MTHFR A1298C ETEROGYGOYS.A DOCTOR TOLD ME TO GIVE HIM BUATERON[CALCIUM FOLINATE] IS THE ONLY WE HAVE HERE IN GREECE.AFTER I GAVE TO HIM HE BECAME MORE NERVOUS FOR A LONG TIME AND THEN I STOP GIVING TO HIM.ALSO I HAVE TEST TOHIM FOR FOLIC ACID
B6
B12
TNF-a
il-6
the results of these tests are fine.no problem.
he had only A1298c eterogygoys.
I WANT TO ASK YOY WHAT CAN IGAVE TO HIM TO IMPROOVE THE METHYLATION ALSO AND THE AYTISTIC SYMPTOMS.
I DONT KNOW WHAT TO DO!
HOW CAN I IMPROOVE BH4?
CAN I GAVE HIM DMSA?
MY SON HE HASNT AYTISM BEFORE 2,5YEARS OLD,HE WAS A CHILD WHO SPEAKS AND ANDERSTANT VERY WELL AND THEN AFTER 2,5YEARS OLD NOTHING.HE DOESNT KNOW WHO I AM.
I THINK IS FROM TOXIC MERCURY AND THEN STARTS AUTISM SYMPTOMS.
MY SON IS NOW 6 YEARS OLD AND 30 KILOS.
PLEASE ANSWER ME SOOM
THANK YOU.
hello my friend, the issues may be deeper than methylation. I do not think one simple intervention will help by itself
Hi Dr. Jill,
The test i did six months ago said I was heterozygous c677t and homozygous a1298c. Seven months ago I had VAD so i still feel some consequences (fatigue from time to time, etc.). Should I supplement my diet with L-MTHFR or other?
Thanks,
Best regards,
M
Hi Mark
It depends on your symptoms but you may benefit
warmly
Dr. Jill
Dr. Jill,
My 23andme results came back, indicating I am double homozygous MTHFR. I’ve been taking methylfolate and feel much better, but had a question about folic acid. Is there a way to detox from any folic acid build up in your system or does it eventually break down and is eliminated?
Thank you!
Hi Mitch,
It will eventually get out of your system
warmly
Dr Jill
Hi Dr Jill
I tested positive for 2 copies of MTHFR A1298C. I have had anxiety issues since when I can remember and more recently depression. I am a 44 year old woman with a history of PCOS. I used IUI to get pregnant and have 9 year old healthy twins. Of late though, my anxiety and depression are much worse…I am wondering about the mood issues that the MTHFR gene mutation could be responsible for. Could you please shed some light on this?
Thanks so much for your help,
Divi
In my experience, double homozygous carriers of A1298C often have insomnia or anxiety
Thanks so much for your reply, Dr. Jill. Does taking supplements of methylfolate help the situation at all? Or is this mutation approached in a different way? I am a non smoking vegetarian with relatively healthy food habits.
Thanks
Divi
Dr. Jill – also, this was ordered by an Integrative medicine doctor but I was hoping to get your valuable inputs as well… it’s very confusing. Thanks so much for taking the time to answer all our questions and concerns here…
-Divi
Hi Dr.Jill,
Just wondering if you have any inputs as to whether supplementing with methylfolate is one of the ways forward. Also, in your opinion, are there any other genetic tests you think will be helpful for the my case – positive for 2 copies of A1298c?
Thanks so so much
Divi
Hi Dr. Jill, My 16 year old daughter is homozygous A1298c and has EDS, Lyme, EBV. Her health has rapidly deteriorated this year after a relatively healthy first 15 years. So scary! Her recent blood work showed excessive folic acid, her urine B12 test (mma?) was “normal”. I read above that you had recommended possibly starting with Biotin 5 mg and from there using Prothera Active B Complex. We are seeing one of the functional medicine doctors on the practitioner list; she recommended a product with a high B6 component and very high manganese and I was concerned about B6 toxicity and overdoing the manganese when we don’t even know what her current status is. Is the Prothera B6 ingredient a relatively safe form and amount?
Yes, P5P or B6 at 50mg or less per day should be safe… If concerned check serum levels of B6
Hi Dr. Jill,
I am compound heterozygous. I am currently being treated for an embedded bladder infection covered by a biofilm. I am taking NAC and Interphase to bust open the biofilm. I read that NAC can raise homocystein levels. I noticed that you suggested to take NAC in your article. What is your recommended dosage? Just wondering if I should stay the course or switch to other enzymes like Nattokinase? There doesn’t seem to be much knowledge about MTHFR in the medical field…my personal experience. Just wanting to make sure that my efforts to get rid of this infection is not hurting me in other ways with my MTHFR. Thank you for any advice you may be able to offer.
FYI – my homocysteine level was at 10.4 as of 06/19/19.
I think NAC is unlikely to raise homocysteine. You likely need methylated B vitamins and TMG
warmly
Dr Jill
Hi Dr Jill
Thank you for the valuable Inputs and replies . I have undesirable Homocysteine level (12.7) my dad had familial cerebellar atrophy .
I am not sure if I have MHTFR gene mutuation or no because genetic testing is not possible where I am , but I have normal B12 levels . I am seriously seeking to take vitamin supplements as a defence line against homocystien and maybe neurodegenration as I know they are somehow linked and that some B vitamins are useful for brain
I am bit confused if i should take B3 and Folic acid or no , many studies speak about their benefits for Homocysteine and neurodegneration .
While other studies say that B3 and Folic acid may worsen Homocytiene , especially in cases if people have MHTFR gene
and that Folic acid may negatively influence B12 levels .
some other opinions say that Niacin form of B3 and Mythfolate form of Folic acid , can be good and harmless
What you think shall I avoid Niacin , Mythfolate if I am willing to reduce Homocysteine and protect or slow brain degeneration
or should I avoid them at all for potential risk
I took Jarrow’s NAC sustain release 600 mg and had a severe reaction. I had a horrible horrible headache with a day and a half worth of vomiting and G.I. problems and vision problems. I was weak and mentally confused for three days. I normally take a good Sam E in the morning and an ALA time release. I have the C677T variant. I was under the impression that NAC would be good for me. Do you have any idea what’s going on here? Thank you Dr Jill.
Some patients who have fungal dysbiosis or certain SNP’s do not tolerate NAC
Dr. Jill,
I have 2 young sons who were born with tongue and lip ties. The both have dimples on their lower backs around the tail-bone region. My husband has a posterior tongue tie and dimples on his lower back near the tail bone. I have a posterior tongue tie. I had 2 miscarriages in a row, with the last one at 20 weeks. The neural tube did not close. With that pregnancy, I was eating a lot of dairies, bread, peanut butter, some salad mixes, ate the fortified/enriched foods and drinks, and took a prenatal vitamin mix with 800mcg methyl folate. My husband was on high sugar, lots of carbs, lots of dairy diet as well. Any suggestions?
Hi LMT
If there are methylation issues like the ones you are describing it may take more than 800mcg to support the deficiency. Best to talk to your doctor about additional support
warmly
Dr Jill
I fully share your opinion. This is a good idea. I support you.
Needed to compose you a very little word to thank you yet again regarding the nice suggestions you’ve contributed here.
hello, what can i do in regards to a b6 toxicity i suffered a couple years ago still get twitching and tingling . Now to find out i am deficient in it would it be ok to take the p5p. the other version i was taking was the pyroxamine hydrochloride. Is it possible when i took that form that the b6 toxicity was really a deficiency in it. Also have gut issues which may be candida or sibo and elevated liver enzymes and high cholesterol. I do think i have the mthfr gene and comt just waiting for confirmation from 23andm3. Thank you.
Yes, this may be more related to your gut microbiome vs. your intake. You might try a stool test like BiomeFX to bet more information.
warmly
Dr. Jill
got tested i am hetero for 677t. Not taking any supplements. So come to find out i have slight dysbiosis and candida/yeast infection in the large intestine/colon. i had an organics test done and it showed that. Never tested for sibo. No h pylori. Some neurotransmitter imbalances. thank you.
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