Wednesday, February 9, 2011


I have been doing a lot of research on the MTHFR gene polymorphism. Apparently around 35% of the population has this genetic mutation. Those that have this gene problem cannot convert synthetic folic acid (which is in everything!) into the active form --L 5 methyl-tetrahydrofolate. People that have this gene polymorphism don't clear heavy metals well. They have an increased risk of cancer (especially breast, colon, and gastric), and have a susceptibility to addiction. Around 98% of children with Autism Spectrum Disorder have at least one of the MTHFR gene mutations.

The following conditions are associated with the MTHFR gene polymorphism: cardiovascular disease, stroke, peripheral neuropathy, still births, pre-eclampsia, neural tube defects/cleft lip, depression, anxiety, IBS, fibromyalgia, chronic fatigue, dementia, migraines, schizophrenia, parkinson's, miscarriage, and infertility.

The biggest problem with this gene mutation is the inability to detoxify heavy metals. Symptoms of heavy metal overload include: social deficits, withdrawal, OCD, bi-polar disorder, schizophrenia, aggression, tantrums, fibromyalgia, colon/pancreatic cancer, liver/kidney problems, hair loss, premature graying, rashes, poor concentration, etc...

Here are some excellent resources for further reading:

MTHFR treatment

MTHFR related health problems

Mark Hyman article on Folic Acid

Video lecture on MTHFR by Neil Rawlins, MD

List of MTHFR resources (also from Neil Rawlins, MD)

Dangers of folic acid supplementations (by Dr. Fuhrman)

Pub Med Studies on:

autism, autism, autism, psychiatric disorders, breast cancer,

A slide show from Kenneth Bock, M.D. on Autism/ADHD/Allergies/Asthma:


Oh, and the active form of folate is available online and in specialty pharmacies, but it is hard to find. There are several prescriptions with active forms of the B vitamins, such as Meta NX, Deplin (folate for depression), and Cerefolin (often prescribed for alzheimers and fibromyalgia). There is a prescription prenatal vitamin with methylfolate called Neevo.

Here is a discussion about real folate.

Here is an article linking folate blood levels to IgE allergies. Of course.


  1. I was happy to find your blog! I have suffered from poor health all my life - endometriosis (which led to hysterectomy), and interstitial cystitis, chronic inflamation around my heart, joint pain - some lupus tests possitive (lupus anticoagulant, ana), and have several chronic infections, fibromyalgia, migrains ... they did blood clotting tests and I had a lot of micro clotts in my blood .. so they tested the genetics and I have a homozygous mutation of the c6777T MTHFR gene. I also have a brother with autism and a sister with frequent miscarriages who tested possitive for the lupus anticoagulant. I wonder if you have any interesting info about if MTHFR can cause these kinds of problems? I'm just very new to all this and trying to understand as best I can.

    1. Yes! Mthfr can cause all of those problems. Mthfr has been linked to blood clots, fibromyalgia, migraines, autism and miscarriages. It also has a strong link to autoimmune diseases like lupus. My mom has fibro, and had to have a hysterectomy very young due to severe endometriosis. She also has interstitial cystitis.

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  2. I am so glad you have this blog. I am c677t /a1298c. I have always had weird medical symptoms. I had taken CIPRO three times over 1 1/2 hrs and had multiple sensory issues, a thermograhm showed inflammation everywhere except my heart and lungs with multiple organ problems, especially the colon. I ended up with diareah for 11 weeks, and lymphocytic colitis, and major disbiosis in gut flora with parasites. I basically became like an autistic person who advised social contact, wore ear plugs, advised bright light(borderline close angle glaucoma), smell drove me to almost vomit or gave me a migrane, my tastes changed drastically, I had trouble swallowing food, and even liquid, my sensorimotor went haywire(I thought my car frame was misaligned because it was rattling. The whole car), had fibromyalgia, and ended up with arthritis in both my hands. I went month without being able to sleep, only sleeping on and off for forty five minutesn to an hour and a half at a time but hardly at all between 11:30 to 4:30. The main thing is to fix your gut flora first with probiotics, enzymes to eat the years, avoid sugar, folate, Methyl B-12, Calcium citrate, magnesium, zinc, molybdenum, P5P. I got great vitamins and supplements and advise from AutismCoach.

    1. I must reply in case you are unaware of the Dangers of Fluoroquinolone Drugs which Cipro & Levaquin amongst many others. They r not strictly antibiotics as we typically think of them. In fact they are CHEMO-THERAPEUTIC ANTI-BIOTICS. THEY DO NOT DISTINGUISH BETWEEN OUR DNA AND THE BACTERIA'S DNA.

      I was severely injured by this class of drugs. I amongst tens of thousands have been harmed. There is much information on the web about the horrors of these drugs. Law suits, Class Action Law Suits. PBS NEWS HOUR did a report about this July 16th, 2011 . Titled "CERTAIN ANTIBIOTICS SPUR WIDENING REPORTS OF SEVERE SIDE EFFECTS.

      Tragic for the public this has been going on for 20 years. The full complete dangers are not disclosed to the Medical Community & therefore the Public. The adverse reactions are often delayed by weeks, with continuing systemic manifestations occurring for months. This is appallingly not a rarity. Once you have been injured and do your own research the curtain is pulled back revealing a massive amount of people hurt. Some have been told they have MS,.....when in fact the repeated exposure to this Class of Drugs has savaged every organ and system of their body.

      I myself after 2years of painful & slow recovery....endless research have now taken a great interest in the science and research happening within the world of Autism. I have not had any genetic testing, but have recently benefitted from using Methylcobalamin for the Cipro induced Peripheral Neuropathy.

    2. Hi Ava, I have a mutated MTHFR gene also, and came across this site looking for some answers. I have family history of diabetes also. Incase you haven't come across information about Alpha Lipoic Acid - this can cure diabetic Neuropathy!!! Maybe it can help you as well. Take 300 milligrams 2 times a day. If you take it with Vitamin C - this will help the Alpha Lipoic Acid to work better. Hope this works for you.

  3. My ex-wife has the MTHFR gene and we did not find out till she had 2 miscarriages. For her to hold my youngest son she had to inject heparin daily. She had early contractions at 29 weeks but with help from magnesium and a few other drugs he was born at 35 weeks.

    I do have a question about the MTHFR gene. Does this gene cause HPV? Before we started to have children she was found to have HPV by her OB and we had been high school sweethearts with no other unprotected meetings with other people. I have never had a HPV outbreak but I am single and ready to get back to the dating scene.

    Please feel free to email me at as I do not know if I will find this blog again.

  4. We just found out yesterday that our 19 year old daughter who has had increasing health problems (pretty much every symptom of both fibromyalgia, chronic fatigue and MORE) has MTHFR both C677T and A1298C mutations. I can hardly believe we have actually found a REASON for all these years of worsening physical problems! I've read lots and lots about it already, and one interesting thing I've noted is that some folks are treating with just folic acid and B vitamins. From what I gather, this is NOT the right cure, but one needs to take methylated folate (methylfolate) which is a different thing.

    I am looking forward to learning more and to HOPEFULLY seeing some remarkable changes in my daughter's health. For years we have pursued every imaginable alternative health option/diet/supplements/etc. and all to no avail. I am almost afraid to get my hopes up that this will help heal her, but am optimistic!!



  5. Hey Evy,

    Did you see progress with treatment?

    I had similar symptoms, including the mutation as well and have tested positive for lyne disease and co-infections.

    Has your daughter been tested?

    I'd love to exchange more information,

    Please email me at

  6. Thanks for asking, that's very kind of you. So far there is not much improvement :( We are thankful for some 'brain' changes we've seen but so far no physical alleviation of symptoms. Likely because the MTHFR is but one of the pieces in the VERY complicated puzzle? Discouraging, but we'll keep plugging along. She says that the Thorne brand mthf gives her a stomach ache while the metabolic maintenance does not. Odd how so many of the supplements have the very things that our poor MTHFR folks are terribly sensitive or allergic to! Hmph! Anyway, I did email you and look forward to hearing back from you.



  7. Evy,

    I strongly recommend you look into Dr Amy Yasko's web presence on treating MTHFR mutations in children with autism aswell as other genetic mutations linked to that pathway - like the CBS gene, which can create excess ammonia /sulfur to build up in the body - so avoiding high ammonia/sulfur foods like cabbage, broccoli, tomatoes, meat etc is essential aswell as treating the MTHFR imbalances.

    I'm an adult with chronic health conditions and have finally after 17 yrs research got genetic results showing several mutations within the methylation pathway, transulfation cycle, coupled with MTHFR homozygous.

    Pheonix rising forum and Dr amy yasko are great places to learn more

    Continued improved health to all :-)

  8. Bec, thanks so much for taking the time to comment. Yes, I am learning much on all of this. The Phoenix Rising site has soooooooooooooo much info.

    Thanks again!


  9. I have just been diagnosed with a single A1298C mutation of MTHFR. My doctor is trying to figure out what supplements to prescribe. I have hemochromatosis and she does not want to prescribe anything that will interact negatively.

  10. Can anyone share the symptoms of having MTHFR? I had miscarriages and wonder if I have MTHFR or blood clotting issue...

  11. It certainly can be a cause of increased miscarriages. Other causes can be B12 deficiency, which may be a result of MTHFR or other methylation deficiencies and/or vitamin D deficiency. GO get yourself checked. Your vitamin B12 level should be above 300 (not 190 as the path labs say) and your vitamin D should be at 100 or above. You need to also check intracellular folate levels, which are a much better indication than serum folate.