MTHFR Gene Mutation-What’s the Big Deal About Methylation?. Do you have a genetic defect in the MTHFR gene??
Maybe you’ve have a family history of heart attack or stroke… maybe you’ve suffered through multiple miscarriages. Or maybe you struggle with chronic migraine headaches or irritible bowel syndrome or depression. Perhaps your child or a sibling has autism. What do all these things have in common? Well, these are just some of the conditions liked to a faulty enzyme called MTHFR.
What’s up with MTHFR?
MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is responsible for the process of methylation in every cell in your body. MTHFR is a common genetic variant that causes this key enzyme in the body to function at a lower than normal rate. This can lead to a variety of medical problems. Although there are over fifty known MTHFR variants, the two primary ones are called C677T and A1298. Your doctor can order a blood test to determine if you have these genetic variants. Better yet, you can order a complete genetic profile yourself through 23andMe.
What’s the big deal about methylation?
Methylation is a core process that occurs in all cells to help your body make biochemical conversions. When people with genetic mutations is MTHFR are exposed to toxins, they have a harder time getting rid of them which can cause some very serious illnesses. The methylation process is responsible for:
- Cellular Repair: synthesis of nucleic acids, production & repair of DNA & mRNA
- Detoxification and Neurotransmistter Production: interconversion of amino acids
- Healthy Immune System Function: formation & maturation of red blood cells, white blood cells & platelet production
The 677T variant is most commonly associated with early heart disease and stroke and the 1298C variant with a variety chronic illnesses, but either anomaly can cause a wide variety of health problems. The MTHFR anomaly is reported out as heterozygous or homozygous. If you are heterozygous that means you have one affected gene and one normal gene. Your enzyme activity will run at about 60% efficiency compared to a normal.
If you are homozygous or have 2 abnormal copies, then enzyme efficiency drops down to 10% to 20% of normal, which can be very serious. The worst combination is 677T/1298C in which you are heterozygous to both anomalies. Many chronic illnesses are linked to this anomaly. Fibromyalgia, irritable bowel syndrome, migraines, chemical sensitivity, frequent miscarriage and frequent blood clots are all conditions associated with MTHFR anomaly. For a great diagram of more methylation related health problems, check this out:
Glutathione is the body’s primary antioxidant and detoxifier. One of the ways that MTHFR gene mutation can make you susceptible to illness is by lowering your ability to make glutathione. People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures. Accumulation of toxins in the body and increased oxidative stress, which also leads to premature aging.
Some conditions that may be associated with MTHFR gene mutations
- Addictions: smoking, drugs, alcohol
- Down’s syndrome
- Frequent miscarriages
- Male & female infertility
- Pulmonary embolism and other blood clots
- Depression & anxiety
- Bipolar disorder
- Chronic Fatigue Syndrome
- Chemical Sensitivity
- Parkinson’s disease
- Irritable Bowel Syndrome
- Spina bifida
- Breast cancer
- Multiple Sclerosis
- Myocardial Infarction (Heart Attack)
- Methotrexate Toxicity
- Nitrous Oxide Toxicity
Treatment for MTHFR
Fortunately, you can easily be tested for the MTHFR mutation. If you find out that you have one or more of the gene mutations, you can supplement with methyl-folate and methyl B12, the active forms of these B vitamins. You can also supplement with liposomal or acetyl-glutathione, the end product of the pathway. Glutathione is poorly absorbed so either the liposomal form or a precursor, called n-acetylcysteine (NAC) may be used. Some of my favorites are Thorne Research Methyl Guard Plus and 5-MTHF 1mg and 5mg.
There are prescription medicines, that also contain methyl-folate: Deplin, MetanX, CerefolinNAC are a few. Methyl B12 can also be given as shots, nasal sprays, and sublingually. The intramuscular shots are by far the most effective method and must be prescribed by your physician. The choice of nutrients will vary from patient to patient and should be done under a doctor’s supervision. There is a bell-shaped optimal curve so you may not feel well with too much or too little of the appropriate supplements. Other B vitamins, such as riboflavin and vitamin B6 also play an important role. As you may have surmised, this can be quite complex and I suggest you find a functional medicine trained physician to help you sort through your needs for the different nutrients if you have a chronic health condition related to the gene mutations. It is not uncommon for patients with these genetic polymorphism’s to be very sensitive to supplementation.
Patients who I recommend screen for MTHFR mutations:
- Pre-conception care: test both man and woman
- Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
- Infants and children of parents with MTHFR mutations
- Family members related to someone with MTHFR mutations
- Elevated folate (not processing to active 5-MTHF due to inability to methylate)
- Elevated homocysteine (due to low active 5-MTHF and methylcobalamin)
- Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
- Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
- Elevated methylmalonic acid (due to methylcobalamin deficiency)
- Patients with syndromes: IBS, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
- Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
- Cancer: family history of cancer or undergoing cancer treatment
- Cervical dysplasia
- Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
- Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
- Drug sensitivities: methotrexate, anti-epileptics, nitrous oxide, anesthesia
If you are interested in knowing more about your genes, the 23andme gene test will be the best $99 investment you’ve ever spent !
For more reading
Holistic Primary Care
Genetics Home Reference
Molecular Biology of MTHFR
Genetics of Homocysteine Metabolism
Homocysteine and MTHFR mutation
* These statements have not been evaluated by the Food and Drug Administration. The product mentioned in this article are not intended to diagnose, treat, cure, or prevent any disease. The information in this article is not intended to replace any recommendations or relationship with your physician. Please review references sited at end of article for scientific support of any claims made.
Thanks for the great information. I have many patients affected by these mutations.
This is a test I can order (as a functional medicine RD). I used to order it more judiciously but as they all kept coming back positive for one or more, I now do it as standard practice. I’ve only had 2 patients who are negative for all mutations. It’s been quite a finding and has made a significant difference for many many.
Wow. What a big prevalence!
I have been tested and told I am homozygous for both 677T and 1298C. I take 400 micrograms of metfolin in my daily vitamin in divided doses and 1000 micrograms of methylcobalamin and 50 mg of vitamin B6 as P-5-P. when I try to add more Metfolin I get physically shaky, feel irritable and cloudy in my thinking. At one point I was up to 800 micrograms of Metfolin a day and tolerating it only by adding slowly 200 micrograms per day and when my NutrEval indicated I needed 1200 micrograms per day of Metfolin and I tried to go up, felt fullness in my chest, shakes, irritable and as if I might get a migraine. These effects slowly subsided over 24 hours. My Functioinal medicine doc thinks that this may just be a stress response. I am recovering from adrenal fatigue. My brother dies from a pulmonary embolism at age 42. Should I be exploring other things in order to take more of the Metfolin or one of these other supplements you mentioned. I am training with the IFM and will do the detox module this summer. Thanks, Sue Pickrel, MD
Sue, I am honozygous for 677T and 1298C as well. Strangely enough, my brother also died at age 42. He died from aortic aneurysm at the heart. I have been diagnosed with fibromyalgia, chronic fatigue, migraines and a host of other issues after taking lupron for my endometriosis. I am trying to find out if there could be a link to what happened to my brother and MTHFR mutations. Having his kids and my kids and parents tested for MTHFR and trying to figure out what to start with. My oldest is autistic and two of my three kids had heart defects and one was on ECMO as a baby. I can’t help but think this is somehow related.
If you have one copy of each, you are heterozygous. Otherwise, instead of the standard 2 copies of the gene, you have FOUR copies of the gene, which would be beyond unusual.
I just wanted to let you know, I was recently diagnosed with the MTHFR mutation. Years ago my doctor tried to put be on B vitamins because my ear was ringing, still is seven years later. Anyway, my point is, these vitamins made me feel exactly like you described above. My thought is, you are not alone in this feeling. I quit taking them after a while.
Please contact me directly through website http://www.drcarnahan.com if you’d like me to send you more information on this fascinating pathway. What your describing is not uncommon because methylation process is so complex & you may be deficient in other co-factors, such as B6, B2, Same, B12, etc… Too much 5MTHF can drive overmethylation or dampen glutathione production and lead to agitation, irritability. Trust your instinct and do not keep pushing methyl-folate. Let me know if you want more info!
And you can also get all of the important methylation genes tested for only $99 through 23andme DNA saliva test. For more information, go to http://refer.23andme.com/a/clk/1SJ2Pz
Great post! These tips are really very useful for maintaining skin.I will surely follow these tips.Thanks for sharing with site visitors.
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I live in Peoria Il…what doctors are in the area that could help me with treatment of the MTHFR mutation…been going thru unexplained hell for the last 2 years and my nurse practitioner discovered this mutation but does not have experience in treating it. Have been trying to get an appt with Dr. Akwa which is proving to be challenging…anyone else you would suggest? Something I was wondering about…didnt really have any symptoms until after my hysterectomy…is this unusual?! 39 now…and would hate to think I am going to feel like this for the rest of my life.
Thanks for your help.
You might try Roberta VanZant, DO in Morton, IL
I have 2 daughters who must have the gene mutations. There are different tests. The difference, I believe, is others give an explanation of the test. I live in Boston, so will a good natuapath who knows the mutations be able to explain the test results?
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Dr. Carnahan, after doing a fair bit of reading online (dangerous, I know) it seems to me there is a fair bit of connection between the effects of the above named MTHFR gene mutations and adrenal fatigue. Do you know if there has been any research exploring this connection?
Well, yes in a round about way. Poor methylation leads to poor detox and sometimes issues with eliminating infections or GI imbalances. All of these thins are stressors on the body and will drain the adrenal glands, especially poor detox.
Hi Dr Jill,
I was recently tested and in compound heterozygous. I have been having agitation and shakiness for the past year as well. I’m just surprised that it seems more acute and why it hadn’t happened prior. Side note, I’ve had fibro since 1997.
Wondering if you recommend additional testing and the best way to start incorporating supplements.
You can do methylation testing through Doctor’s Data for metabolites
Hello, I tested heterozygous for C677T today after my sister informed me she tested positive last week. I am 32, have had psoriatic arthritis for 4 years and also have a lot of anxiety and chronic fatigue. Do you believe there is a link to all of this being due to this mutation? I havent been able to find any reliable information linking this to autoimmune conditions. Any information provided would be greatly appreciated.
The MTHFR mutations are not “causing” your symptoms but they are causing your body to have more difficulty eliminating toxins or infectious issues. The link to autoimmune disease is leaky gut and many patients with MTHFR polymorphisms have imbalanced microbes in the gut which lead to dysbiosis and autoimmune disease -you can read more about that link here http://doccarnahan.blogspot.com/2012/04/leaky-gut-syndrome-linked-to-many.html
My husband and I are both negative for C677T, but both hetero for A1298C. We have three adult. Also family members live well into their 90’s. I have anxiety and insomnia but testing indicates narcolepsy, which is never for me. Will have sleep study soon. We cleaned up our diet about five years ago and both have hypothyroidism. Both gluten sensitive and other food allergies. I catch every new cold that my grandbabies have. we are in our mid 60’s and enjoy good health with exercise and plenty of water with lime, no diet drinks, no fast food.
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Dr. Carnahan, you write above “The worst combination is 677T/1298C in which you are heterozygous to both anomalies.”
Do you mean homozygous rather than heterozygous in this sentence?
Although technically two copies of both genes (homozygous) would be worse, it is very uncommon, whereas the heterozygous C677T/1298C is much more commonly the worst case scenario 🙂
I have double gene mutation homozygous hereditary hemochromatosis… I have SEVERE CFS SEVERE FIBRO DEPRESSION ANXIETY BIPOLAR SEVERE MCS!! I
We live in CT 06850. Is there a doctor that you can recommend nearby? Will this test for $99 be adequate for testing MTHFR mutation. I will then need a doctor to “read” it and guide me. I do not know of anyone in the area. The issue is severe anxiety and depression, weight loss, fatigue, hair loss, skin issues, etc. Have been doing gluten free diet for several months. No medicine has ever helped the anxiety depression. Thx
I suggest finding a functional medicine trained physician in your area, try searching at http://www.functionalmedicine.org by zip code.
I know you may have already gotten a good doctor in your area but if not you might want to try Dr. Minna Kim (www.stamfordnaturopathic.com). She treats patients w/ MTHFR, but she is an ND not an MD.
I tested positive for A1298C only. what should i supplement with? my holistic md does not know. thank you for your help.
You’d need to consult with a functional medicine specialist because each case is individual and may depend on multiple factors. You can search for docs at http://www.functionalmedicine.org. Or if you’d like to set up a consult, you can contact us at http://www.drcarnahan.com
If my sister is positive for both A and C and my half sister is also positive, and I suffer from many symptoms of MTHFR is it okay to just try the homocysteine factor supplement for six months or should I test first? Or is it most prudent to test first? Money is the concern.
You could probably try low dose methyl-folate and methyl-B12 and be safe. Just recommend start low and go slow 🙂
I have the MTHFR A1298C variety. I’ve had depression since childhood. In my 30’s, after having two babies, I began getting FM/CFS symptoms which have continuously worsened over the yrs. I am now 52 and so sick of being sick. I tried Deplin for a couple of yrs, methyl b12 shots at home. Numerous supplements, alternative treatments, rx meds, you name it. Nothing seems to help at all. I’m thinking I need to revisit info like this on MTHFR, maybe now there is more info and treatment ideas. Any info would be greatly appreciated. Thank you!
Recommend getting 23&me testing and then analysis of SNPs and seeing a functional medicine physician who understands these and knows how to treat. Best of luck to you!
Hi I had a pe in oct 2012. I was tested for mutation and it came back that Im positive for mthtr c677t . I have unknown reason for the pe. Ibeing in coamadin for a year now today is going to be my first day out of medication. I don’t want to be on warfin for life . What are my chances of another pe .taking the fact I have the one mtfhr c677t.
Supplementing methyl-folate may be helpful in your case
I have a double gene mutation for hereditary hemochromatosis. I’ve been diagnosed also with Lyme disease fibro chronic fatigue and severe multi chemical sensitivities. Having a terrible time with my health will definitely talk to my doctor and hematologist about this. Thank u so much:-)
Sure – hope it’s helpful 🙂
would homogenous mthtr c677t result in high c reactive protein?
c-reactive protein is a marker of inflammation and is not specific. May not be related to MTHFR gene mutation…
thanks for the reply, not sure what is causing my high crp?? neither does my functional PCP and I was just found to have this gene disorder. THANKS!
Hi Dr. Jill,
I’m trying to help my sister who has the MTHFR A1298C and advanced Parkinson’s. We need a doctor in Florida, anywhere between Miami and Palm Beach. We’re familiar with several of the doctors on the functional medicine doctor list, but they don’t seem to have in-depth knowledge on treating methylation defects, amino balancing, handling other genetic issues, detoxing, etc. Are there doctors you could recommend that have experience with Parkinson’s and the above that I mentioned? If you don’t know of anyone in that area, would you be able to suggest someone who would work with her by phone? Thanks so much.
Thank you for your questions… I suggest seeing my colleague, Dr. Perlmutter in Florida, who is an expert functional medicine neurologist (http://www.drperlmutter.com/about/perlmutter-health-center/). If that does not work out, I do phone consultations but prefer that patients come in for initial visit in Boulder, CO.
Hi Dr. Jill,
Thanks for the quick response. My sister has seen Dr. Perlmutter. She is receiving glutathione IV’s regularly. His current focus is getting her on the cinemet, which she can’t handle because of side effects. He did not focus on the methylation defect, only mentioning that he didn’t think it was a cause of her problem with tolerating the L-dopa products. My sister is unable to travel in her current state of health – would you know of anyone else in Florida who might have that type of knowledge?
Why don’t you give our office a call to schedule a phone consult. Information on booking here http://www.drcarnahan.com
What can I expect if I have this test done and sent the results to a normal specialist physician / GP? We do not have many functional medicine guys in Mpumalanga South Africa.
Depends… I believe patients are their own best advocates so the more you learn and equip yourself, the better! Learn as much as you can and take the information to your doctor with suggestions and perhaps the two of you can work together. In fact if he is open minded, you might just enlighten him!
I am currently being treated by my ND for topical steroid withdrawal. I used topical steroids for eczema for over 30 years. An MD in CA has researched this and states some atopics become addicted to the steroid creams and the only cure is total cessation from them. I am currently 9 months free of the creams and was told it might take up to 3 years to stop withdrawing. My skin has been a disaster and I was out of work until recently. My ND put me on 5-MTHF, liposomal glutathione, MSM, and NAC. After researching I realized he was possibly treating me for the gene mutation. Have you ever come across this in your research? I plan to get the DNA testing once we move out of NY (23 and me cannot process samples out of NY state), I do not have any other gene mutation issues other having severe post partum depression.
All I do know is my skin is significantly better since being on these supplements and I am able to work again. There are many others out there like me suffering from this steroid withdrawal. I would like to know if it is possible that we suffer as badly as we do because of this gene mutation and not being able to rid the body of the toxins in a more timely manner.
Thanks for sharing your story, Tracy! That is great news that you are doing so much better!
Hi Dr. Carnahan,
I found that I was homo+ for C677t 10 years ago after multiple miscarriages. I now suffer debilitating migraines. Mostly after eating high tyrosine foods, although there are other triggers. Is there a link between MTHFR and maintaining serotonin levels? What is the link between MTHFR mutations and migraines? Should I get tested for other forms of the mutation? Can you suggest a knowledgeable practitioner in or near Bend, OR (97701)? Thanks a bunch. Kristin
Hello there. I would suggest the 23&me test for you as well. I also suggest finding a doctor trained in functional medicine in your area who can help you navigate the results.
Thanks for the information! Can you recommend a functional medicine doctor in the Bay Area?
Try searching by your zip code at Find a Practitioner on http://www.functionalmedicine.org
I read the 23andme terms and conditions. Where or how can I find out if it is legal to sent silava from South Africa to Califorina?
I am sorry, I don’t know the answer but suggest you contact 23andme directly for more info 🙂
My 8 week old son has a diagnosed tongue tie as well as a lip tie and umbilical hernia. Through a breastfeeding support group I was referred to a tongue tie support group where I first began to see the connection between midline defects and MTHFR mutation. Worried now about continuing vaccinations and starting solid foods without knowing more. Do we test him? If so what for? It maybe of interest that I have RA (vs. Psoriatic arthritis) and my son had a concave chest at birth that seems to have resolved for now.
I suggest finding a holistic pediatrician of doctor trained in functional medicine in your area. Try searching http://www.functionalmedicine.org
What brand Methylcobalamin sublingual do you recommend to your patients? Have C677T and B12 deficiency that has been diagnosed Pernicious Anemia. Have been trying the liquid Methylcobalamin 1000 mcg under tongue daily. Causing my tongue to feel funny, dry mouth, neck and shoulder pain. Think perhaps a sublingual would work better for me? What doseage do you typically recommend if serum B12 level is now eithin normal range?
I like Prothera, Inc brand Methylcobalamin and usually works great. To order, you can go to https://www.protherainc.com/prod/proddetail.asp?ID=K-MB12 and use my physician code = 618
Just found out I have this genetic mutation. My psychiatrist ordered it and my doctor knows nothing about it. So I have no idea which mutation I have or what to do about it. I’ve had muscle/joint pain, idiopathic angioedema, extreme RANDOM allergies, anxiety, depression with psychotic features, constantly sick, ect for many many years. Since my doc has no idea what to do about it I certainly don’t either.. I’m in the Chicago area.. any thoughts as to what I should do from here?
There are many well trained functional medicine docs in Chicago. You might try Dr. Amy Weiler
When I look at genetic profile’s from psychiatrists one wants to focus on COMT, GAD, and mthfr as well as a few others to see how the gene expression could be reflective in the person’s symptoms. Most traditional medicine doctors are not proper educated in the complexity of epigenetics, but my self and others are working to change that. Don’t treat the snp, but rather the person is the biggest mistake I see with doctor’s. Best of luck..shawn
Hello, reviewed more than a few forums, and can’t find my answer yet. I have RA, and with my Methotrexate, as is standard practice,I take 3mg of Folic acid daily. I tested heterozygous for A1298C, and changed over to a methyl-folate 440mcg, and a methyl B12. After about a week, I have noticed an improvement in my hypertension, so was thrilled. What I have been unable to find yet is, would I work up to the same dosing of the methyl-folate as the standard Folic acid?
Thanks for this forum, found it helpful.
Even if you know your genetic SNPs, like A1298C, each patient is different. I would start slowly and work your way up to 3mg methyl-folate but watch how you feel and your other symptoms. You should be able to find a “sweet spot” where you feel great and dosage between 1-3mg daily. It is very common to need a slightly higher dose for the first 1-2 mod and then less to maintain.
My brother has been diagnosed with this mutation, along with CADASIL. Another brother also with CADASIL. Myself, I tested negative. Should we both be tested for this mutation? Is it a genetic mutation similar to CADASIL? We are falling apart over here in California! Thanks, lori
Yes, do test and order quickly as the 23andme may stop testing in the near future….
This is the disclaimer at the beginning of the 23andme website:
At this time, we have suspended our health-related genetic tests to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.
We are continuing to provide you with both ancestry-related genetic tests and raw genetic data, without 23andMe’s interpretation.
Is the “raw genetic data” enough?
Disappointing to say the least since this was a very affordable way to get a thorough gene analysis. Keep watching since I think they’ll be up and going again soon. It’s too bad the FDA feels that the patient has to be “protected” from their own genetic & health information…
and yes, raw data is just what I use to analyze SNPs. No need for interpretation from 23andme if you are working with a knowledgeable practitioner…
Dr. Carnahan, my daughter who is 28 had two miscarriages and insisted upon checking for this mutation. She does had the most severe form of it. Last week she suffered eye pain, and visual loss which they are saying she has orbital neuritis and are sending her to a neurologist for further workup for MS. Her Head MRI showed no lesions at this time. Do you think there is a link here and also who would you recommend in this area. We live in South Carolina. Murrells Inlet,SC. Thank you so much for your advice.
I recommend my colleague, Dr. Cynthia Libert in Blairsville, GA (http://drlibert.org/aboutus/cynthia-j-libert-m-d/) You can also search for functional medicine trained docs at http://www.functionalmedicine.org.
Dr.Carnahan, I have recently tested positive for A1298C. I’m having trouble finding a doctor in the Dallas/Ft. Worth, Texas area. Do you have any colleagues in this area? Thank you,ME
If you search on http://www.functionalmedicine.org, there is a well-trained ND you will find in your area…
One ND showed up on my search. But her information stated she does not diagnose or treat medical conditions. She will provide alternative options and consulting toward wellness and healthy
living. Can you help explain the role of an ND. Thanks, ME
Dr. Carnahan, I have recently had some blood work done and it revealed that I am homozygous for MTHFR Mutation A1298C. My levels for homocysteine were low (normal 5 umol/L) my Factor VIII was 183%.
The reason I had blood work up done was because is in May 2013 I had a saddle PE and DVT. Prior to that I had abdominal surgery. What I am trying to figure out was did the surgery cause the DVT and PE or was I at an increased risk due to the MTHFR A1298C mutation (that I discovered in Jan 2014). Thank you
Your baseline risk was likely higher than average due to the mutation but the surgery was a definite risk factor as well – likely a combination of the two.
I think i need to test for this.I have had my intestines taken out,depression.epilepsy.fibro,migranes,had a stroke at 50,and lost my mom at age 62 to a heart attack. Have never heard of this. Is there anybody in the Alamogordo or Las Cruces,New Mexico area? Thank you
I just found out I am heterozygous for both 677 and 1298. My cortisol levels are 2.7, I am low in progesterone, aldosterone, pregnenolone and high in estrogen and testosterone. I can also get severely depressed at a drop of a hat and then be fine the next day. Could all this be due to the mutation? thanks
Hi Katherine – mood disorders are very common with MTHFR mutations….
I am 51 years old and I am suffering from Chronic Migraine Headache, Thyroid – Hashimoto, Meniere’s, Fibromylgia, Candida and suspect of Lyme. I eat very healthy all my life, never smoke, never drink, never take any drugs, very atletic before and I got all these. Is been four years since I am in menopause and from that time my health is very bad. I am exhaustion because the pain of migraine and the pain every where in my body,the nausea and the dizziness. After I changed many doctors because they told me that the symptoms are in y head, my new doctor find out that I am positive with C677T. I heard that taking thyroid hormones together with medication for MTHFR can cause very bad side effect. Also my doctor put me on Estradiol because the menopause. I have not taking any medication yet for MTHFR which are: methylcobalamin 5mg, 5-methyltetrahydrofolic acid 800mg, P-5-P 50mg.
The only medication I am taking now are : Armour 60 mg, Lumbrokinase 20mg, and lot of vitamins (not folic acid).
I so worry to medication because I get bad side effect from the synthetic medication and same minerals.
Also, I order ZEOLITE to detox my body because I have very high level of mercury and it doesn’t have side effect.
I really appreciate if you can tell how can I start taking all these supplements and I have to cut the dosage because the side effect.
Thank you very much!
Hi there, Your medical history is complicated and you really need to find a good functional medicine doctor who will help you sort through these questions. If you have not done so already, you can search by zip code at http://www.functionalmedicine.org.
In my humble opinion this remains a very poorly understood phenomenon and much of the information online, from practitioners who purport to treat it and otherwise, is inconsistent and not yet supported by sound science. I myself have seen a couple of supposedly very good functional medicine doctors as well as two very highly rated naturopaths and their recommendations were wildly divergent. The more I go down the road, the more I think that except for very well-defined diseases and even then, people would be much better served by eating a really clean diet and reducing their stress levels than by placing their faith in supplement regimes. My two cents.
Hi Pete, thanks for sharing your opinion! I agree with you that diet is absolutely core in getting well and usually about 80% of the treatment. This is a relatively new field and so not all docs are equally qualified to make recommendations for successful treatment. However, I still think that the genetic testing can be very useful in the patients who has complex chronic disease.
I appreciate the response, and perhaps you are the exception to my view of functional/integrative/alternative medicine doctors, but even with a fairly straightforward situation (homozygous a1298c but none of the other problematic methylation SNPs one reads about), I can’t seem to get a coherent recommendation. For example: you need more testing (although I already have spent tens of thousands of dollars on many of the tests beloved by the alt med world). Take Deplin. Deplin is way too much methylfolate just eat leafy greens or take a very low dose. Take hydoxycobalamin not methylcobalamin. Vice versa. Don’t take B12 at all your levels are already high. Etc.
Hi my 5 year old has thick lining of the bladder and hydronephrosis of both kidneys, with macrohematuria present (in either Kidney or bladder, they are not certain) the last time he was admitted into childrens hospital. They had hemotology come in and run a full blood work up. On my follow up visit with Hemotology they said all blood work came back normal. However I requested medical records to provide to another doctor for a 2nd opinion. Going over the records myself I found that is was noted that he tested positive for homozgous MTHFR C667 mutation. Nothing has been said to me and I am furious that it hasnt. I also have an 11 year old with ADHD and asbergers. I will look into getting her tested as well. My mother in the last 5 years suffered a suberachnoid anyurism and several strokes. My mother in law has horrible IBS and my brother in law has Cardiomyopithy . I dont know what to do or where to go at his point, and am devistated that Hemotology specialists at Childrens Hospital Orange County dont see it of any improtatnce to let a parent know that the child is Homozygous !
There is no doubt a connection between these genetic SNPs and your child’s health issues. However, many doctors are unaware of the significance of these mutation. Methylation involves detoxification processes, DNA/RNA repair and neurotransmitter synthesis so it can affect many areas of health. I suggest finding a doc trained in functional medicine who understands testing and treatment of SNPs.
Hi Dr. Carnahan, I recently found out that I am homozygous for MTHFR 1298A SNiP. I have a rather complicated medical hx including NHL, celiac disease, PMR, CFS, clinical depression, chronic leukopenia, migraines, etc.. etc… My main concern at the moment is that I have been prescribed Carac cream for some pre-cancerous lesions on my face. I am hesitant to use it due to the possible risk of toxicity with my gentic make up. Is this a valid concern? If so what would you recommend instead?
Thank you in advance.
Hi Myra, I would not worry too much about the topical cream. It’s probably a better option than having surgery for removal of lesion.
Hi Dr. Carnahan,
I am compound heterozygous A1298C / C677T. My child is homozygous A1298C. I have fibromyalgia, high homocysteine, spondyloarthropathy and am also having what may be hormone issues – stopped losing weight no matter what I’ve tried and am frankly irritable – also menstrual issues, fatigue and Factor V Leiden. Basically, I’m a mess and at the end of my rope trying to “fix” everything using traditional approaches. I went paleo and GF 2/2013 and completely sugar free 8/2013. I stopped losing weight in October and finally got fed up in March. I’m still GF and basically Primal, but hand me a glass of wine and chocolate! 😉 I need a Dr in the Orlando, FL area or one I can work with long distance (and afford or use insurance).
I am terrified about my child’s diagnosis, because my father was an alcoholic and just a mess. I am pretty willing to bet he too was homozygous a1298c. There is a history of bipolar and addiction issues on his side of the family.
I have been using Swanson’s products and do feel better, but also don’t feel “right”… I’m thinking something is missing or maybe it,s not enough… I’m using their Homocysteine Formula, Methylcobalmin, B complex (methylated) and take an aspirin a day. I’m using Westhroid Pure for my thyroid (only have a sliver left) and that may not be optimal either. I would like to find a Dr who could help me with both MTHFR, thyroid and hormones if needed. I’m willing to drive to the right Dr…
Do you have any recommendations? Thank you!
Hi Christi, Unfortunately, as you might imagine I cannot give medical advice on the blog but I do recommend you find a functional medicine doc in your area to help you navigate these complex issues. Try searching at http://www.functionalmedicine.org for practitioners trained that live near you. Wish you the best in health & healing!
Dr. Carnahan, I had my neurotransmitters tested for anxiety/depression and have low GABA and Taurine. Later found out I am homozygous A1298C. I have been to two different functional medicine doctors in NJ and neither knows how to handle these two issues, in addition to taking Pristiq and Klonopin. I started taking one half tablet Douglas Labs Methyl B12 plus with 400mcg metafolin and 1000mcg methylcobalamin. Will this have any affect on my neurotransmitter levels? I would like to get off of my meds and use a natural treatment. In addition, I have had positive Lyme titers and probably have not rid my body of biofilms, toxins. Is there someone in NJ you can recommend for methylation in regards to these chronic issues?
Try searching for functional medicine trained physicians by zip code at http://www.functionalmedicine.org.
Hi Dr. Jill! I recently found out that a family member has the MTHFR gene mutation. As I’ve read more about it I am convinced that my 5 year old son has the mutation also. He has multiple issues with allergies/asthma/detox etc. I want to get him tested. Our family doctor said that she could do the blood test but it didn’t cover all the mutations, only one. We had planned on using the 23andme test but I just went to their site and saw that they aren’t doing the health testing anymore. Do have any recommendations on what kind test to get that will give the most thorough results? I suspect that both sides of our family may have this mutation. Thank you so much for all the valuable information you have posted in this area! It’s been a blessing!
Oh, by all means due the 23andme which is a steal for only $99. You will still get all the genetic raw data, just not interpretation from 23andMe website. It will contain everything you need to get info on COMT, MTFHR and others…
Hi Dr Jill.
I got diagnosed positive for one copy A1298C variant and negative (normal) for C677T.
I just want to know if you know a good doctor with knowledge in Miami area? and
what other test you recommend me to do? 23andme? Now is $199 in their website.
23andMe is still the best option for price as you get more data. It would be at least $199 and likely quite a bit more to get MTHFR gene testing through any regular lab. Check online at http://www.functionalmedicine.org for docs in your area.
Can someone recommend a doctor in Jacksonville, Fl
I don’t think blood thinners are gonna fix all my other issues
Please and thank you
I have two questions. 1. My hematologist put me on folbic for homozygous C677T. Is that not good? Not methylated? I am in eastern long island, NY and wonder if I should go to a different dr. I also have antiphopholipid antibody syndrome and had 5 miscarriages before I had 3 children.
My children have not been tested yet but two suffer from depression and my son was just diagnosed with idiopathic hypersomnia. If he tests positive for MTHFR could this be related?
Also, I had a 23 and me report done before I was diagnosed.. I didn’t see anything about this on the report (paid $199).
You may want to work with a functional medicine specialist but your hematologist should know to put you on a methylated form of folic acid and B12. The 23andme raw data can be run through 3rd party applications to get SNP reports.
Need a Dr close to me i live in Deleon , i need one out of abeline,tx ft worth , Arlington tx, if possible i have two copies of C667T homozygous
search by zip code at http://www.functionalmedicine.org
Do you know if there is a connection between TSW (Topical Steroid Withdrawal) / Red skin syndrome and MTHFR mutation? What can be done to avoid / lighten TSW symptoms for patients who have this mutation and how to come out from this TSW nightmare?
I am not aware of any direct connection to MTFHR gene mutation
What is optimal supplement(s) for homozygous MTHFR C677T and also having COMT V158M….main symptom anxiety/depression.
It depends… we don’t treat the genetic SNPs, we treat the individual person.
Wonders never cease! I’m homo for 1298 and hetero for 677. B12 deficiency in 1995, been supplementing for 22 years, some years better job of compliance than others. Learned about folate 3-4 years ago and added that too. Had breast cancer Dx this year, double Mx. White count has been low since Dx. So hematologist is taking monthly blood tests. I’ve always had slightly low RBCs, extra large RBCs, slightly high MCH MCV but normal homocysteine (high only once a long time ago), but i Lyn this year do I test low for WBC. What to make of this? I did have two surgeries followed by keflex antibiotics, but the WBCs were low in July before surgery. NO CHEMO NO RADIATION. Sentinel lymph node had no cancer. Very early stage very low likelihood of recurrence EXCEPT that my dad died of prostate cancer at age 66, Dx at stage 4 at age 59 so it was there a good long time. I’m 49.