MTHFR Mutations and the Conditions They Cause

MTHFR Mutation

MTHFR Mutation

MTHFR gene mutations can cause absolutely no symptoms at all. They can also cause severe irreversible health conditions such as Down’s syndrome.

Research is still pending on which medical conditions are caused by, or at least partially attributed to, the MTHFR gene mutations.

From the partial list I recently went through on Medline, these are the current symptoms, syndromes and medical conditions relating to the MTHFR gene mutations:

I will continue to add to this list as I find new conditions and symptoms caused by the MTHFR gene mutations.

Updated: December 6, 2012

  1. Autism
  2. Addictions: smoking, drugs, alcohol
  3. Down’s syndrome
  4. Miscarriages
  5. Pulmonary embolisms
  6. Depression in Post-Menopausal Women
  7. Schizophrenia
  8. Fibromyalgia
  9. Chronic Fatigue Syndrome
  10. Chemical Sensitivity
  11. Parkinson’s
  12. Irritable Bowel Syndrome
  13. Pre-eclampsia
  14. Stroke
  15. Spina bifida
  16. Esophageal Squamous cell carcinoma
  17. Acute Lymphoblastic Leukemia
  18. Vascular Dementia
  19. Bipolar disorder
  20. Colorectal Adenoma
  21. Idiopathic male infertility
  22. Blood clots
  23. Rectal cancer
  24. Meningioma
  25. Glioma
  26. Congenital Heart Defects
  27. Infant depression via epigenetic processes caused by maternal depression
  28. Deficits in childhood cognitive development
  29. Gastric Cancer
  30. Migraines with aura
  31. Low HDL
  32. High homocysteine
  33. Post-menopausal breast cancer
  34. Atherosclerosis
  35. Oral Clefts
  36. Type 1 Diabetes
  37. Epilepsy
  38. Primary Closed Angle Glaucoma
  39. Alzheimer’s
  40. Tetralogy of Fallot
  41. Decreased telomere length
  42. Potential drug toxicities: methotrexate, anti-epileptics
  43. Cervical dysplasia
  44. Increased bone fracture risk in post-menopausal women
  45. Multiple Sclerosis
  46. Essential Hypertension
  47. Differentiated Thyroid Carcinoma
  48. Prostate Cancer
  49. Premature Death
  50. Placental Abruption
  51. Myocardial Infarction (Heart Attack)
  52. Methotrexate Toxicity
  53. Nitrous Oxide Toxicity
  54. Heart Murmurs
  55. Tight Anal Sphincters
  56. Tongue Tie
  57. Midline Defects (many are listed above)
  58. Behcet’s Disease
  59. Ischemic Stroke in Children
  60. Unexplained Neurologic Disease
  61. Asthma
  62. Shortness of Breath
  63. Bladder Cancer
  64. Anecephaly
Now what?
Consider ordering a MTHFR Genetic Test to see if you or a family member – or friend – has the most common MTHFR genetic mutations: A1298C or/and the C677T.
Additional Research:

128 Responses to “MTHFR Mutations and the Conditions They Cause”

  1. Elaine Boni September 10, 2011 at 4:45 am # Reply

    I am shocked by the list of possible disorders and I have 5 of them!!! Wow I never knew.

    • Dr Ben September 10, 2011 at 7:48 am # Reply

      Hi Elaine –

      Thank you for your comment.

      Yes – it is truly amazing how significant MTHFR is for our body to function properly.

      What is even more amazing is the lack of understanding by the medical community.

      Doctors need to treat the cause of disease and practice prevention.

      That is not happening…my goal is to make it start.

      I appreciate your taking the time to comment.

      Do share this post with others so they too can understand the significance of MTHFR.

      Have a great weekend!

      Best
      Dr Ben

  2. Dr Ben September 15, 2011 at 7:42 am # Reply

    Just received this via email:
    ” Hi Dr Ben, My husband and I have both recently been diagnosed with a MTHFR variant and I am hoping for some advise. I have gained quite a bit of information from you website and I must thank you for that.

    Recently I was pregnant after trying to conceive for 5 yrs and eventually having success on our first round of IVF. For five years I’d done everything I could to conceive naturally, had amalgam fillings removed and tried detoxing my system. Eventually I was diagnosed with endometriosis, which I had surgery for, and a uterine fibroid, which they left alone. I went into premature labour at 17 wks gestation, subsequently after medical intervention failed, I delivered a live baby boy at 18 wks 1 day gestation. This was on the 2nd of July 2011 and our little boy died very soon after birth. They believe, but do not know for sure that this was caused by incompetent cervix. On examination of the placenta they found blood clotting on the foetal side and as a result we were tested for clotting disorders. It has been found that I am heterozygous C/T 677, no other clotting disorders were found. My husband is heterozygous A/C 1298. They believe our baby may have had both and although they don’t think it caused my pre-term labour, he may have had intra-uterine growth restriction from the MTHFR mutations.

    My obstetrician said it’s not such a big deal but recommended 5 mg of normal folate and also B6, B12 and B1 & blood thinning injections for me in pregnancy for the first 20 weeks. She only suggested that I need to do this in pregnancy and for my husband only for pre-conception. My GP seemed to have a better understanding of how to treat it, as she has recommended the active forms and for us to take it all the time, but still didn’t think it was a big deal. she was also not that clear on optimal dosages. I am in Australia and I have found a doctor here that specialises in treating MTHFR. However he is not even considering taking new patients until next year. I have been trying to search for what products are available here in Australia and I’m finding it a little difficult to get information and find people who understand it properly. I was recommended to order Methyl-guard and the other suggestion I’ve had is Dr Vera’s products. Your formulation, HomocysteX, does sound very good and I’m wondering if it is able to be shipped to Australia? I am also wondering what sort of dosages would be recommended in our circumstance. I am starting to think that MTHFR may also be a contributing factor with many other of our health issues. Thank you very much for your time.”

    I will respond soon.

    Dr Ben

    • Harrison November 9, 2013 at 3:37 pm # Reply

      I am also in Australia. Possible to find out name of doctor knowledgeable about MTHFR?

  3. Nicole October 1, 2011 at 4:03 am # Reply

    Hi Dr Ben,

    I found out last Christmas that I have MTHFR after having several miscarriages. I have two children now, 6 and 2.5…and my littlest one I am so worried about. He is very skinny and is not gaining weight. Could my MTHFR be passed to my children? Could it cause growth deficiencies? What should I worry about? The doctors ran a bunch of blood tests and they were fine. They did a bone aging xray and that has cause some “high concern” according to the dr. Early today I did not even think to mention MTHFR although I remember reading that it could cause issues with my children. I was so worried about my son that I forgot about my own issues. They say there are more test that has to be done as soon as possible…and they tell me not to worry. Any thing you can tell me, would be great.

    Thank you!
    Nicole

    • Dr Ben October 2, 2011 at 5:41 am # Reply

      Nicole –

      I’m thinking positively for your son. Once you find out what is wrong, and you’d like a second opinion, please do consider scheduling a consult with me. Children are meant to be healthy and it pains me when they step out of it – even if only briefly.

      As a father of three children and a physician that approaches ‘disease’ from an different perspective, I may be able to shed some light on causation and effective approaches for your son. http://www.healthegoods.com/consult.html

      Yes, as a mother with MTHFR, you can pass a mutation on to your children. Their father can as well if he has a MTHFR mutation. Doctors seem to forget that fathers play a role in genetics here.

      I recommend testing your husband for the MTHFR gene mutation. If he has it, then you need to test your children as well.
      http://www.healthegoods.com/mthfr-test.html

      If your husband doesn’t have any MTHFR mutation, then you know that your children have at least a 25% chance of getting your MTHFR mutation.

      If your son has grown difficulties, there are many things possible for that – including simple nutrient deficiency.

      Keep me posted – and again, I am available for consultations should you need one from a functional perspective.

      I recommend waiting until you get further lab results back.

      Sending healthy positive thoughts,

      Dr Ben

  4. Cheryl Joynes February 1, 2012 at 2:48 pm # Reply

    I just found out yesterday that my 20 yr.old Autistic son is positive for one copy of the C677T mutation & one copy of the A1298C mutation. The only reason we found this out was because of an abnormal Thyroid lab result. I took him to an endocrinologist who said he wanted more tests done..and here we are. Now everything makes sense. He was developmentally delayed and eventually they said he had Autism. He was hospitalized three times from age 7 to 12 with psuedo cerebri tumor unknown idiology. He has had no symptoms of that since age 12. My mother had 6 miscarriages before she had my sister & I. One of my sisters was born with Spinabifida and died when she was a baby. My Mother had several strokes & heartattacks before she died at 62. She had diabetes and so do I. I am going to be tested next week for MTHFR and so is my sister. Here is my question.. If I have it does my two older boys have it too? My one son has a drinking problem but the other has a Phd. Does it skip generations?? Thank you in advance.

    • Dr Ben February 2, 2012 at 3:06 am # Reply

      Cheryl –

      MTHFR mutatations are passed down through families. The odds of getting a MTHFR mutation depend on how many copies the mother and father have.

      It does not ‘skip’ generations – it simply depends on the odds of getting a MTHFR mutation from either or both parents.

      If you have it, your two older boys may have it – especially the one with the drinking problem as addictive behavior is linked to MTHFR mutations.

  5. Alicia February 11, 2012 at 4:18 am # Reply

    Was pregnant with #5 baby (lost my 3rd and 4th precious ones in utero) when they found out I was C667T and A1298C MTHFR, Protein S deficient, IgG was messed up, and there was another deficiency. I want to say Protein C? I threw 2 DVTs is why they found them. Now I am post partum a year and have started reverting back to previous symptoms related to CFS. I am dumbfounded that these (MTHFR and CFS) could very well be related. You are correct when you say that Docs aren’t too familiar with any of this. In pregnancy they were all clueless on how to explain it all. They just kept telling me, take your Lovenox and be happy your baby is ok for now. Thanks for digging deeper!

  6. Christie B. February 20, 2012 at 10:10 pm # Reply

    I’m wondering if a MTHFR mutation is a possiblity if I don’t have many of the issues listed, but do have some (MS, chemical sensitivities, gut issues). I had no trouble with miscarriages, and I don’t have high blood pressure (I tend toward low), and my HDL is great, and so on. What makes me really wonder, though is that my son has type 1 (and seems to be heading into chronic fatigue – makes me sooo sad), and my sister has had many miscarriages (no full pregnancies) and migraines and mental health issues. A half sister has epilepsy, and the father we share died young (30s) with addiction issues, type2, and heart disease, and his mother had Alzheimer’s. So, although I don’t have a lot of the issues, there are lot in my family. But does that matter, or does a person need to personally have a lot of the issues listed above for it to be a possible contributor?

    I very much appreciate all the detailed information here. And I will be coming back for more if I test positive.

  7. Jill April 18, 2012 at 11:21 pm # Reply

    I actually just found out from my doctor today that this is what has caused all of my miscarriages. I have both mutations. Are there some articles that can help me learn more?

  8. kristen April 26, 2012 at 3:40 am # Reply

    I just found out today that I have one of the mutations. My doctor didn’t go too much into detail about it but prescribed me some medication to help my body absorb folic acid. The only thing is that I am confused about it all still. I have two healthy little girls and have never had a miscarriage.

  9. lauren April 30, 2012 at 8:41 pm # Reply

    are you familiar with a connection of MTHFR to interstitial cystitis? iwas following another thread on vitamin B12 and ended up here. I also seem to become randomely allergic to thing that didnt bother me before including b12…the supplements give me hives on the soles of my feet and the palms of my hands.

    • Dr Ben May 2, 2012 at 4:30 am # Reply

      Hi Lauren –

      A direct connection – no. However, MTHFR does predispose one to increased histamine, decreased healing (due to decreased DNA production) and a weakened immune system. In order for interstitial cystitis to subside, it needs to have tissue repair, immune system intact and functional along with normal levels of histamine.

      Which form of B12 were you taking – and what were the ingredients? And how much were you taking?

    • Rachael October 15, 2012 at 9:13 am # Reply

      Lauren,

      My naturopath told me about MTHFR after years of being exhausted and sick with many medical problems; doctors couldn’t figure out why I was so sick, but I was diagnosed with IBS at 14, Interstitial Cystitis at 25, constant anemia, fatigue, systemic yeast infection, and so many other symptoms I can’t remember.

      I mention this because the worse the Interstitial Cystitis got, the more foods irritated my system, including the B12 vitamins I took! B12 gave me symptoms like a UTI. I had to resort to getting shots, which did not irritate me. I also had constant inflammation in the sinuses, which made me stop breathing at night, in the digestive tract, of course you know where inflammation is for Interstitial Cystitis, and in my injured knee.

      I wanted to let you know in case any of this is affecting you. Also, the foods didn’t always filter through to begin irritating my bladder for a week or more (but sometimes faster), so it was hard to track. I haven’t been officially tested yet, although I will as soon as I can, but my family has depression, anxiety, schitzophrenia, heart problems, autism, Parkinson’s, addictions, so many of the linked health problems that I will be surprised if I don’t have it.

      One more thing I think of; I started reacting to codeine and a few other medications which never gave me trouble before as well–and then I was able to take it another time, without adverse reaction.

      • Leah December 4, 2012 at 5:02 pm # Reply

        Rachael, wow your history sounds like mine, starting at age 14 i had severe menstrual cycle and IBS started about 16-17 for me and then IC age 24. I have 11 genetic mutations, including CBS and MTHFR. I am sensitive to sulfur foods and have trouble with FODMAPS foods (specific carbohydrates). Anxiety run on both sides of families depression and addiction on dads side and heart attack/strokes on both sides. I’m lucky i only inherited 1 copy, but it’s still been a lot of symptoms with only 1 copy because i had a lot of chemicals,heavy metals in me. ~ Good luck with your research and treatments. I think we’ve found something that will lead us to feeling better soon. :)

    • Rachael October 15, 2012 at 9:13 am # Reply

      Lauren,

      My naturopath told me about MTHFR after years of being exhausted and sick with many medical problems; doctors couldn’t figure out why I was so sick, but I was diagnosed with IBS at 14, Interstitial Cystitis at 25, constant anemia, fatigue, systemic yeast infection, and so many other symptoms I can’t remember.

      I mention this because the worse the Interstitial Cystitis got, the more foods irritated my system, including the B12 vitamins I took! B12 gave me symptoms like a UTI. I had to resort to getting shots, which did not irritate me. I also had constant inflammation in the sinuses, which made me stop breathing at night, in the digestive tract, of course you know where inflammation is for Interstitial Cystitis, and in my injured knee.

      I wanted to let you know in case any of this is affecting you. Also, the foods didn’t always filter through to begin irritating my bladder for a week or more (but sometimes faster), so it was hard to track. I haven’t been officially tested yet, although I will as soon as I can, but my family has depression, anxiety, schitzophrenia, heart problems, autism, Parkinson’s, addictions, so many of the linked health problems that I will be surprised if I don’t have it.

      One more thing I think of; I started reacting to codeine and a few other medications which never gave me trouble before as well–and then I was able to take it another time, without adverse reaction

  10. Elizabeth May 15, 2012 at 5:15 am # Reply

    hello, i was dx with double mutation mthfr in 2009, but here are the issues Ihad leading up to that in 2008 I had two miscarages and after the second it was just down hill from there. I started having migranes on a daily basis, fingers were going numb as well as feet, couldnt keep balance was dizzy and confused all the time then started having blackout moments I couldnt see hard to breathe hot sweats, and irratated all the time. Finally woke up one morning andcouldnt stand one side of my face was numb left arm wouldnt work, speach was awful. Check in at the emergency room was told I had bloodclots in the brain, and arms and legs, and I was having strokes I was diagnosed at that time with endocardists.well three months later it started happing again found out I was expecting so i went and saw a ob specialist thats when she said I was treated for wrong dz, at that time she put me on aspirin and folicacid, b12 and b6 and lovenox. I had a healthy baby girl and so we are now left with daily symptoms. I HAVE DAILY HEADACHES SOME LEAD TO MIGRAINES, dizzy spells, memory loss numbness exct….. were should I ask my dr to send me so I can g et back to feeling good?

    • Lynn_M July 5, 2012 at 4:12 am # Reply

      Elizabeth,
      Anyone with MTHFR should not take folic acid or any form of b12 other than methylcobalamin. The body cannot metabolize those inactive forms. Take L-5-MTHF (Metafolin) and sublingual methylcobalamin, plus other cofactors.

      • Dr Ben July 6, 2012 at 1:09 am # Reply

        Elizabeth and Lynn –

        There are some individuals with MTHFR which may find hydroxocobalamin to be more effective – esp those with COMT and or MAO A mutations. It does vary from person to person. I am learning more about this daily.

        • Lynn_M July 6, 2012 at 4:33 am # Reply

          Those MTHFR individuals who may find hydroxycobalamin to be more effective – does it matter which form of MTHFR they have?

  11. Tammy June 30, 2012 at 12:20 pm # Reply

    After suffering several miscarriages I saw a Reproductive Immunologist who tested me for a million possible conditions. My blood test results showed that I am homozygous for A1298C. I have numerous “minor” autoimmune conditions (eczema/psoriasis, Lichen sclerosus, gluten intolerance), but the miscarriages and Chronic Fatigue are issues I couldn’t ignore. I knew they had to be connected somehow and this mutation seems to explain them all. The reason I’m commenting may be considered petty, but I’m actually doing it out of pride for my adorable son! I have a gorgeous 5 year-old boy with Down syndrome. Your articles have been eye-opening and I intend to have my son (who also has Celiac Disease, casein and soy intolerance, Hashimoto’s, and chronic sinus infections) tested for this condition as well. It sounds like a given that he’s got the same mutation! (I’m going to have my husband tested too) Most people think his syndrome is called “Down’s Syndrome” or “Down Syndrome”, but it’s actually “Down syndrome” (Capital D, lowercase s). Just an FYI! Thank you again for your insightful articles!

  12. Soma July 4, 2012 at 8:24 pm # Reply

    I wish I had read this many years ago… but I am thankful that Drs are now becoming more aware. I had a very difficult time getting pregnant, and menopause fairly young. I’ve had a lifelong problem with digestive problems. About 10 years ago I went thru problems with memory and panic attacks and severe hair loss, every doctor I saw wanted to put me on anti-depressants until I saw a Dr that specialized in nutrition and tested me and found I have MTHFR gene mutation. I began taking b-12 shots and Deplin which helped. My question is that now that I no longer have health insurance, its difficult to pay the monthly charge and the Dr. I’m now seeing when I told her of the mutation, told me to take an aspirin everyday for stroke and didn’t prescribe anything. What do you suggest I should do to help me avoid the problems associated with MTHFR mutation? thank you.

    • Lynn_M July 5, 2012 at 4:07 am # Reply

      Soma,
      You don’t need prescription methylfolate or B-12 shots. You can get OTC L-5-methyltetrahydrofolate (L-5-MTHF) and take sublingual methylcobalamin, and they cost a lot less. Dr. Ben sells such products here http://www.seekinghealth.com/best-supplements/l-methylfolate-calcium-supplements.html. Or, you can get Solgar Metafolin (L-5-MTHF) or Jarrow or Enzymatic Therapy methylB12. When looking for methylfolate, it’s important to get the L-forms and not the racemic forms.

  13. Tracy Siddons July 23, 2012 at 4:17 am # Reply

    Hi Dr. Ben, I am positive for heterozygous A1298C and have very many health issues. I have had four miscarriages and finally conceived by means of donor IVF. I was pregnant with triplets but the identical twins miscarried. My son was born with tetralogy of fallot He also was dx with autism at 24 months. I knew I had the gene mutation but my drs did not think it was relevant. I also am positive for heterozygous PAI 4G/5G polymorphism. I was told to take 4 mg of folic acid / 1 mg b-12 / and 50 mg of b6. Also baby aspirin. I did so throughout my pregnancy. I also had to get rhogam shots due to being A negative. I’m wondering if my issues could have caused my sons issues even though he is not genetically mine? He is now also being tested for MTHFR mutations and cerebral folate deficiency ( folate receptor antibodies). I’m trying to uncover all his issues. He has had many tests. Yeast/ bacteria overgrowth which I suspect for myself too. Is it true that people with MTHFR cannot detox properly? He is currently using homeopathy also for vaccine damage. Any advice would be much appreciated. I will sched a consult if needed. Thank you

  14. Nelwyn July 29, 2012 at 3:06 am # Reply

    I have the A1298C mutated gene and discovered this after 3 late missed miscarriages (also had a couple of early miscarriages). I had a healthy baby boy, a late missed miscarriage, then a healthy baby girl, a late missed miscarriage, a early miscarriage, and another late missed miscarriage and I’m now 13 weeks pregnant & taking 81mg of ASA & Lovenox along with the prescription folic acid (folbic). My mothers family has a long hf of alcoholism and they are from native Indian descent. Does alcoholism or Indian heritage have more of a risk for MTHFR & does alcoholism cause the mutation? My son was also recently diagnosed with PDD and I have had several of the issues you list r/t the MTHFR. I’m so interested in finding out more for my family.

    • Lynn_M July 30, 2012 at 6:24 pm # Reply

      MTHFR mutations make one more susceptible to alcoholism. This gene mutation is present at conception. Alcoholism is a risk factor that may enable the MTHFR gene mutation to become expressed. MTHFR and alcoholism both lead to deficiencies in the B vitamins.

      Folic acid is not useful for people with MTHFR mutations. It is a synthetic and people with MTHFR can’t metabolize it. You need the metabolically active form of folate L-5-MTHF. One commercial form is called Metafolin. You also need methylcobalamin B12 and other cofactors.

      • Nelwyn August 11, 2012 at 10:24 pm # Reply

        I plan on discussing the metafolin & L-5-MTHF supplements with my provider, but based off what their nurse tells me, they only prescribe/recommend the folbic. I’m hoping this group of doctors is open to considering the better alternative for their patients. I recently visited a family practice physician & mentioned the MTHFR mutations & how I was diagnosed & he was very interested in learning more and was not familiar with theS term MTHFR. I recommended this website & gave him Dr. Ben’s name. Some doctors will be open to listening to their patients & can benefit from this information, while others may not (unfortunately).

        • Dr Ben August 12, 2012 at 7:51 am # Reply

          Nelwyn –

          I appreciate you trying to increase awareness of the MTHFR mutation and what it causes. It is patients like you who make things happen and get doctors to learn new things.

  15. susan mcfarlane August 14, 2012 at 8:02 pm # Reply

    I have just been diagnosed with both mutations of MTHFR. I was wondering if my mother was a carrier could this have contributed to her vascular dementia? We are all surpised this happened because my mother has always maintained a healthy diet, never smoked or drank. She has never had high blood pressure or cholestoral levels. It is a huge shock to us that she has been having mini strokes for a few years now.
    The past 6 months she has had two episodes of dizziness and nausea where she wants to stay in bed. Any help or advice would be much appreciated.

    • Dr Ben August 17, 2012 at 7:18 am # Reply

      Susan –

      Absolutely. Get her tested for MTHFR, homocysteine and fibrinogen levels right away. CRP also would be good to measure.

      I can help here but need more details. A consult is a good idea once you get these numbers back.

  16. Alina August 17, 2012 at 3:17 am # Reply

    Hi Dr. Ben,

    Does this mutation (all by itself) cause these diseases or is it one of the factors causing the diseases?
    In other words if I have this mutation then does it mean that I will have for sure some of the diseases?
    Just trying to determine to what extend the mutation has an impact on someone’s body.
    Thank you.

    • Dr Ben August 17, 2012 at 7:17 am # Reply

      Alina –

      Good question.

      It depends who you ask.

      I do not believe there in fact ‘diseases’

      There are illnesses caused by various things such as bacteria, heavy metals, viruses, etc; however, the medical conditions named various things like Celiac or Diabetes or Cancer are in fact not diseases at all – they are rather signs of dysfunction.

      To answer your question: MTHFR is a factor in causing dysfunction.

      If you watch this MTHFR presentation – it may answer a lot of questions for you and your doctor.

  17. boomzy August 23, 2012 at 12:49 am # Reply

    Just found out that I have a MTHFR mutation and I have a few of these conditions and I know a lot of people in my family have some too. Hopefully, I can talk them into getting tested.

    • Diane Teague August 27, 2012 at 10:57 pm # Reply

      Dr. Ben,
      I recently tested with you for MTHFR and my results were negative for both markers. Both of my adult daughters are compound heterozygous. (Their father is deceased and was never tested.) It’s my understanding that with them being compound heterozygous I would need to have at least one marker. I don’t understand. Can you please explain?
      Thanks,
      Diane

      • Lynn_M August 30, 2012 at 3:51 am # Reply

        It is possible that your daughter’s compound heterozygous was passed on my their father. He could have given them one copy of A1298C and one of C677T. I believe the chances of his A1298C gene passing on, which is 50%, is independent of the 50% chance of his C 677T gene passing on.

  18. Bernice September 16, 2012 at 3:06 pm # Reply

    Dear Dr. Ben:

    I just stumbled upon your site. I can not even tell you, how happy I am that there is someone a doctor, out there who knows exactly what MTHFR C677T and A1298C stands for. As you have stated, this gene mutation is not very well known with the medical community, including many doctors who do not know what it is. This I know first hand. I was diagnosed in 2003, I have both gene mutations MTHFR C677T and A1298C.

    I am 52 years old.

    In my mid and then late 20′s I too, suffered 2 miscarriages.
    No one could give me any answers? I was told by doctors, “Well it just happens”?

    I was diagnosed with Scleritis of both eyes in 1990. I literally woke up one morning and both my eyes were totally complete blood red. I have been seeing a brilliant Ophthalmologist at UC Davis Medical Center, in Sacramento, CA. Thanks to him I am not blind today. I have been on optical prednisone everyday 3 to 5 drops into each eye for the last 22 years. I am so grateful for my sight.

    In addition, I was then diagnosed with Ankylosing Spondylitis, (AS), and then Lupus SLE.

    I have a Heart Murmur, severe asthma, (lung problems had phenomena 11 times), osteoarthritis and rheumatoid arthritis and psoriasis.

    In 1998, at the age of 38 years old, I suffered a stroke. Yes, timing and medical attention are key. I am alive today, thanks to the wonderful treatment that I received in the Intensive Care Unit.

    Still no one can say why? How could this have happened? No doctors could give me answers. I went to PH Therapy 5 days a week for 1 1/2 years. I if you saw me today you would not know I have had a stroke. Only when I am extremely tired do sometime I get right leg drag.

    Then in 1999 I was again hospitalized for 2 weeks with 3 blood clots in my left leg. Again, no one has or had any answers. I was put on Coumadin 15 mg. daily, with weekly blood Protime Testing, moderating my INR closely.

    In 2002, again I was hospitalized for yet another blood clot of my right leg.

    Finally, in 2003 I was sent to a Hematologist. He informed me that he was going to preform a battery of blood labs and hopefully we may get an answer?

    I received a phone call, to schedule a follow up appointment with the Hematologist.

    The day before my Hematologist appointment, I had a retune scheduled appointment with my Internal Medicine doctor. She said, “Oh my God we finally have an answer to what is going on”. She was copied on the bloody work the Hematologist ordered. She asked me when I was to see the Hematologist? I told her, tomorrow. She said, “We finally have answers and they are mind blowing”. She told me that he needs to explain everything to me for he was the ordering physician…But we finally have an answer. Good Right?

    Well, the next day I saw the Hematologist. We walks in and goes well nothing was found? The blood work found nothing out of the norm. I looked at him puzzled and then I said “Doctor, I am sorry but I think you are wrong”. He was taken aback and then took a very cocky cold attitude. I said, “Doctor I don’t think you received all the lab tests”. He said, “What are you talking about…Look everything is right here…There is nothing”. I then said, “Doctor yesterday, I had a regular routine scheduled appointment with my Internal Medicine doctor. My Internal Medicine doctor was blown away by what came back regarding my blood work”. She told me, “She can’t discuss it for she was not the ordering doctor, but tomorrow the Hematologist will explain everything to me and we finally have answers”. I simply said ” please give Dr. so and so a call she can tell you what the diagnoses it. He was beyond PISSED…(excuse my language). He stormed out of the office and got on the phone calling the doctor and asking what labs does she have and what does it show? He then called the LAB and chewed them out in addition to his staff. It was then, that he diagnosed me positive with both defective MTHFRA Genes C677T and A1298C. He then went on telling me just how rare it is to be diagnosed with both.

    Thank God, I had the appointment with my Internal Medicine doctor the day before and she clued me in a little that they had answers per the labs. Had I not had that appointment with my Internal Medicine, I would have went into the Hematologist appointment blind….Not knowing anything…And he would have dismissed me for he did not have ALL the FINAL LAB REPORTS.

    ONE MUST BE THEIR OWN ADVICATE!!!

    I cannot stress enough…..Know what is going on with your body and your doctors.
    Make sure your doctors have all your documentation. If they get pissed off…Too Bad… It’s your life!

    In addition in 2003, I was hospitalized with MRSA, after a hysterectomy. I an catholic and was administered the last rights. I am very lucky to be alive today.

    So, Dr. Ben…I am so grateful, that there is a doctor out there who is “Very Concerned” when it comes to the MTHFR Gene.

    Today, I am presently on 12 1/2 mg of Coumadin every day except for Thursdays and Saturday’s, were I take 15mg.

    I look forward, hearing from you.

  19. Tracy October 22, 2012 at 3:32 am # Reply

    Hi Dr. Ben, I have a son who is 3.5 yrs old. He was Dx with autism at 23 mos. he was also born with tetralogy of fallot. He had complete repair at 2.5 months. We have a DAN dr who has done many tests on him. We have discovered he has Mthfr C677t mutation and positi e blocking antibodies for folate. Test done at SUNY. He has been slowly becoming more cognitive with increasing methyl folate, but he remains non verbal. He makes many verbal approximations but no real words. Wanted to know what An average dose of methylfolate and b vitamins are good for a 33 lb boy. And have you seen this before with mthfr c677t with delayed speech ?

  20. kiznkitten November 21, 2012 at 11:09 am # Reply

    I just found out about MTHFR from my new Naturopathic Doctor (Bastyr University). He is using l methyfolate to cure my type 2 hypothyroidism. I was taking huge doses of liothyronine, T3, to overcome my resistance to thyroid hormones and within days of starting the folate I had to start coming down fast on my dose of T3. For the first time all of my symptoms are fully controlled and I am amazed at how much better I feel. This disorder cost me a good life and left me destitute and in poverty. I am happy that I finally know what is really going on and not only have a treatment, but potentially a cure. Dr Ben please look into the relationship between MTHFR and type 2 hypothyroidism formerly called peripheral tissue thyroid hormone resistance.

    • Dr Ben November 23, 2012 at 8:17 pm # Reply

      Hello –

      Yes – MTHFR and thyroid are linked. If one has MTHFR, converting tyrosine into thyroid hormone is reduced as the cofactor of methylfolate is inadequate. Once methylfolate is present, this pathway can once again work.

      This is only one reason why MTHFR and thyroid disorders are linked. Of course, one has to look at the ability to eliminate xenobiotics is now more effective once taking methylfolate. Many xenobiotics affect the thyroid.

      I am glad you are better ;)

      • Allie November 23, 2012 at 10:11 pm # Reply

        Hi Dr Ben
        I would be interested to know if there are circumstances where an overactive thyroid/goitre can be caused by MTHFR?

        Thank you, Allie

      • Isabella December 29, 2012 at 5:40 pm # Reply

        Wow, the puzzle just keeps getting more and more complete. I have had thyroid issues for years, but no one has been able to treat it. My tests have flucuated constantly from low normal to normal – though we knew I had clear issues. I have nearly every hypo symptom in the book. I also have AF, so my cortisol is screwed up too. However, I cannot tolerate thyroid or cortisol of any kind, even at the lowest doses. I wonder now if this could have been my reason why all along. It would be nice to be able to lose weight again, have my hair stop falling out, not feel like I am exhausted all day long and so on. I so can’t wait to find an MTHFR ND or MD in my area.

        Kiznkiten, may I ask who your ND is and where he is located? Thanks.

        • Naomi May 25, 2013 at 3:25 am # Reply

          Isabella, I applaud you for your informative posts. You sound so similar to me, actually. I have a shocking amount of the conditions listed here:

          1. Autism
          2. hypothyroid, which fluctuates in being either unresponsive or intolerant to T4 or T3 medication
          3. AF, and ME
          4. PCOS (this may account for the weight gain, hair loss, and inability to conceive)
          5. severe depression
          6. migraines with aura
          7. multiple food intolerances and allergies
          8. fibromylagia
          9. extremely poor circulation
          10. permanently disdended, painful stomach
          11. highly unstable body temperature
          12. heart problems
          13. chronic anemia
          14. vitD deficiency

          There are many more, but I’d be here all night lol.

          Every PCP and endo I’ve visited has been less than sympathetic. I have changed them numerous times and now don’t know where to turn. Every ailment bar hypothyroidism has has been dismissed repeatedly, and I’ve had to make a ‘nuisance’ of myself (to quote one PCP) badgering them relentlessly for tests. In the end I still had to pay out of my own pocket for tests, all of which verified the aforementioned conditions. Yet my PCP does not listen to me, refusing to rx me Cortex and Florinef even though I am permanently fatigued, exhausted and zombified, and results SHOW low cortisol and abnormally low aldosterone. Neither will he agree to the MTHFR tests, despite solid evidence of their link with autism. So I will just have to pay out of my own pocket yet again, with money that I do not have, for a test from a private lab.

          It’s ludicrous, doctors will not listen. They call us hypochondriacs, malingerers, nuerotics, mentally ill. We’re not. My quality of life has been on the decline for the last several years, and is now very poor, yet I am being told the only issue is my thyroid.

          Might anyone here be able to advise me at all?

          • Isabella May 25, 2013 at 11:08 pm #

            Naomi, time for you to get a new PCP. Never ever stay with a doctor who refuses to help you or who thinks you are not sick. Been there, done that, way too many times. And you don’t need a Dr. to take the MTHFR test. You can order one of the main ones at http://www.23andme.com Takes about 6-8 weeks to get the test results and they email them to you. Then find yourself a qualified ND who is very experienced in treating not only your other conditions, but MTHFR. It can be very complex, so don’t let them tell you it’s a one size fits all treatment. What state are you in?

  21. Isabella December 15, 2012 at 1:32 am # Reply

    According to your list, I have 10 of the conditions. On another list I saw on the net, which had additional symptoms, I had 14. I have multiple health problems that nothing has ever helped and we’ve never known the core cause. I am looking into cavitations right now, for specific reasons. Now I wonder if I could have this also. Now I just need to find an MTHFR MD or ND or So. Cal. You’d think here, there would be plenty, but haven’t found one yet. I saw a recommendation for one on a different website, but they had terrible reviews. I wouldn’t go to them. Thanks.

  22. April December 26, 2012 at 9:17 pm # Reply

    I was diagnosed with MTHFR in 2010 while I was pregnant with my 3rd child. My 2 previous pregnancies where complicated by preeclampsia and I actually went into renal failure with my second. While pregnant the 3rd time they told me I was clotting so bad that it was killing off part of my placenta so after a $2000 blood screen MTHFR and 2 plasma gen activators came back. I started taking lovenox 2x a day, baby aspirin, and folic acid. I have had no treatment since then due to a lack of health insurance. Should I be concerned or is this like the preecampsia that went away after the delivery of my child?? I have a few symptoms that I wonder is they are related…I am depressed, constantly tired and weak, about 2 times a year I lose a LOT of my hair, my legs are extremely sensitive, and I have hypertension.

    On a side note my father passed at the age of 41 from a massive blood clot. I was told this was a hereditary condition by my doctor who diagnosed me. Do you think he may have had this disorder as well??

    • Isabella December 29, 2012 at 5:38 pm # Reply

      April, wow, I have the hair loss thing too several times a year (in fact I’m in a heavy cycle of it right now) and I have constant leg pain and cramps. In fact when I first became “sick” about 17 years ago, crippling leg pain was my first symptom, before digestion issues were added. I have a clotting condition also, which I never knew about until some doctor I went to at UCLA for whatever reason decided to test me for it. About 10 years later, I decided to be retested on the clotting disorder, to see if I still have it, and not only do I still have it, but the doctor told me he had never seen anyone test positive on every single clotting test (I guess there are multiple, different clotting tests used when testing “clotting” as a whole). I never understood how I got this. My guess is that it was from having lyme (which I also supposedly have, but don’t remember being bitten by a tick). My grandpa had clots in his lungs, my grandma had massive heart issues, my mom has prolapse mitrovalve, etc. My grandma had horrible health issues, basically from birth, throughout her entire life. I wonder now if she too could have had MTHFR. I will never know. I take a nattokinase like supplement called Boluoke. No problems with it at all side effect wise and I think it probably has helped me a lot – though I still have never gotten pregnant – or rather, if I have gotten pregnant, I think I probably miscarried before my period came. I hope you find your answers.

  23. Randy January 19, 2013 at 4:03 pm # Reply

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    I’ll bookmark your weblog and take a look at once more here regularly. I’m reasonably certain I’ll be informed many new stuff right right here! Best of luck for the following!

  24. Kim McDougall January 25, 2013 at 6:26 pm # Reply

    Dr. Ben,

    I read all these comments with curiosity. I was just diagnosed with the double mutation. I have suffered for years from many of the symptoms on your list. Six years ago, I was diagnosed with Dysautomia, which causes much of the syndromes listed (such as IBS, Chronic Fatigue). I was wondering if you know anything about Dysautonomia and if there is a link to MTHFR.

  25. Linda D January 30, 2013 at 12:33 am # Reply

    Dr Ben, I have been wondering if i should check into MTHFR. I have numerous symptoms and a positive lyme test in 2007. The odd part is that I have fabry disease which is a genetic mutation. Could I actually have both of these? Wouldn’t the MTHFR have shown up when they did the fabry assay? They did know our family mutation when i was tested so i am sure they looked for it specifically. I have family members who do not have fabry but they sure do have a lot of MTHFR symptoms.
    Thank you, Linda

  26. John February 3, 2013 at 1:27 am # Reply

    I am a believer in MTHFR and that it is involved in so many problems. Actually it is probably an upstream cause for the many chronic illnesses which can be cured by improved methylation. Good info on this website.

  27. Angee February 4, 2013 at 2:32 am # Reply

    I know i have mthfr but not sure if i have both. It’s kind of confusing. I was tested for it when I was pregnant since I had already had a dvt at 32. She tested me & I have this & factor 5 leiden. They just put me on blood thinners & called it a day. They said i didn’t have to mention mthfr since its not really anything.
    Fast forward & after i had my son i developed thyroid issues. Graves disease, i barely could walk & all kinds of issues. Ended up with tendonitis & rotary cuff stuff which was wierd. I complained of arm pain forever & they never did anything. Now I have trigeminal neuralgia which they can’t explain.
    it’s hell. Im just wondering if that could be why????
    I just never feel well, ever & now this trigeminal stuff has stopped my life. im a single mom of a 3 year old & i can barely work & im so stressed which isn’t good but just curious if mthfr has anything to do with this?

  28. Laurie February 7, 2013 at 4:57 am # Reply

    Please excuse me if this has already been covered, but how does one go about getting their health insurance the pay for the test? Thank you, Laurie

    • Pat February 7, 2013 at 8:09 pm # Reply

      I read that you have to have your doctor order the test to have health insurance cover the cost.

      • Kir February 7, 2013 at 11:07 pm # Reply

        I think it depends on your insurance. I’ve had similar tests and some were covered and some weren’t. They were ordered by an ND who is authorized to prescribe Rx drugs and order lab work. Some insurance companies won’t cover ND tests and some will. It seems to me more NDs know more about MTHFR than traditional doctors do. But if anyone has a way to get Yasko covered by superbill submission or lab test request, I would love to hear it, as I have not taken it yet. Wasn’t sure if I should have an ND order it to see if I could get it paid for. I paid for 23andme myself.

  29. Martienne March 22, 2013 at 3:44 pm # Reply

    I ran out of B6 and went only one week without it while waiting for the order. Twice during that week I had a simple partial seizure, and it’s been years since I’ve had them. I wondered if it was related to this, so I decided to search your site. I’m assuming this means it could be.

    My thought was that perhaps a small blood clot in the brain could have caused it, but that’s only an assumption. There is still so much more I need to learn about MTHFR. (I have one mutated copy of C677T and one of A1298C.)

  30. deborah April 9, 2013 at 6:27 am # Reply

    Ehler Danlos

  31. Sham April 29, 2013 at 8:29 pm # Reply

    Hi dr Ben

    Is there any evidence that MTHFR or other SNPs may cause azoospermia?

    Thanks

    • Dr Ben May 1, 2013 at 10:42 pm # Reply

      Sham –

      I would say a LOUD, YES. MTHFR is the driving gene for methylation. Low methylation status causes low creatine and low carnitine – which are both known to be needed for healthy sperm. CoQ10 production is also involved with methylation and fertility.

  32. Barbara May 2, 2013 at 1:14 am # Reply

    Hi Dr. Ben,

    How much CoQ10 should a woman take to improve her fertility? I read that a good daily intake is 100mg but my fertility clinic says 600mg a day. It seems to be a lot but maybe this is what is necessary to do the job? Or maybe the dosage depends on the quality of the supplement as well. I am using CoQ10 from Dr. Mercola for now. Is it a good one? Any other brand names that you would recommend?
    Thank you very much.
    Barbara

    • Dr Ben May 2, 2013 at 6:59 am # Reply

      Barbara –

      600 mg does seem like a lot – and you’re right – it depends on the quality. I am not sure what Mercola uses in his CoQ10. In the prenatal I’ve formulated, I’ve added 50 mg but it is a high grade CoQ10 – a new one that I’ve found which has incredible absorption compared to others I’ve seen.

      I’ve not seen any harm with higher levels of CoQ10 – but there may be. I know the pocket book is one harm. Need to be looking at other nutrients also – like carnitine, creatine, phosphotidylcholine, etc

  33. Scott Schaffer May 13, 2013 at 9:11 am # Reply

    HERE’S A CORRELATION I WISH MORE WOULD PUT TOGETHER:
    As we know MTHFR causes major issues with detoxing this backing up in the body. Autism is extremely common -98% I believe with autism have been found to have MTHFR gene deficiency. Autism is often misdiagnosed bipolar schizophrenia etc. SSRIs and antipsychotics are often given. Nearly every school shooting nationwide and abroad has been done by quiet loners often bullied fitting the autism spectrum bill. Those with the MTHFR gene would have been far more like to have suffered from toxicity of those very drugs thst lead to the homocidal suicidal ideation type side effects – whst I’m saying take the Adam lanza’s the Dylan kliebolds test their DNA and I bet you anything you will inevitably find out hey have at least one copy of MTHFR gene.
    Please spread this around – people need to know the cause- the truth

    • Martienne Cotter May 13, 2013 at 7:20 pm # Reply

      Well stated, Scott! In fact, I just shared a link to this page and your comment on FB.

    • Naomi May 25, 2013 at 4:42 am # Reply

      If only more medical professionals were like you, Scott.

      In case you or anyone is interested, my story may support your case somewhat:

      I am 28, was diagnosed with autism a few years ago and have an exorbiant amount of other health conditons. My parents are both on the autistic spectrum and have numerous serious health issues, as do several of my cousins. My elder sibling who is now deceased may have been autistic, too. I was forced onto antipsychotics and then SSRIs from age 13 when it was believed I had schizophrenia. Precisely as you said, these did nothing but make me feel suicidal and go emotionally overboard. I felt such hatred, loathing and resentment for some people and myself, that I wanted to kill them and myself. I never acted on it, fortunately, but the desire was there.

      My parents, too, both of whom have been on antidepressants for nearly 2 decades, are extremely volatile. Both are alcoholics (my mother was also a drug addict) with emotional issues and violent tendencies. I have struggled with addictions, too, and whilst I am not violent or abusive I have a ridiculous temper on me. I also harbor grudges and have difficulty letting go of emotional pain.

      Now, we are only one group related by blood, so perhaps it’s more a case of us being related that we all react badly to SSRIs? Is it something organic that always exists to a certain extent but is exaccerbated by the SSRIs? My parents were never clean living emotionally stable people- on SSRIs they’ve simply become an extension of themselves. I am not sure how I would have turned out had I never been forced to take the meds. My addictions came after taking being put on the meds, whereas my parents were addicts when I was born, but who knows if I may have developed like them independently of any medication? Definitely, more research needs to be conducted into the possible link between MTHFR, autism, addiction and antisocial thoughts relating to SSRIs or not.

      I’m not sure how common it is. I have met plenty of people on the autistic spectrum or with autistic family members who have no such problems. I have met plenty who take SSRIs and are fine. I have also met a few who tolerated SSRIs so badly that they went on to take their own life. Is it an MTHFR-autism link, an autism link, a non autism MTHFR link, or something else entirely? Who knows, but I hope my story is of some use.

  34. Sophie May 16, 2013 at 9:58 am # Reply

    Hi
    I am supposed to be tested for the MTHFR gene mutation later this morning. I told the nurse I was currently taking the recommended B vitamins by my acupuncturist because I was undergoing my 5th ivf and the doctor didnt feel at that time I needed to be tested. My question is will it effect the outcome of my results since I’m taking the b vitamin supplements? When I asked this question I was told just to cross off the order for the test since I’m being treated. I would really like to know if I have this mutation.

    Thank you for any info you can share!
    Sophie

    • Martienne Cotter May 17, 2013 at 2:00 pm # Reply

      It will still show up on the labs. It’s a genetic mutation, so the B vitamins are essentially treating the symptoms.

      • Sophie May 17, 2013 at 2:43 pm # Reply

        Martienne
        Thank you for your reply! I was hoping that was the case so I did leave it on my lab slip. I’ve got to get some info on why we keep miscarrying.

  35. Cori May 22, 2013 at 7:13 pm # Reply

    my son was just recently diagnosed with autism and among other things we are dealing with our families saying he is ”normal” and we are trying to find excuses for our faults in parenting. my best friend recently found out that she has the MTHFR mutation and started to research it and it regarding autism as well as some issues that i have. (severe anxiety, depression, etc) my son was delayed in his speaking, he has always had major meltdowns, not just fits, and i’ve always had a feeling in my gut that something was off, i didn’t want it to be, but i wanted to FIX IT… i finally (against all my family) decided to go with the 3 different pediatricians advice and get him evaluated. 4 or 5 visits later with an psychologist specializing in autism, we found out – yes. he is autistic. high functioning. ok, now we have an answer, but how? why? how can we prove it? all those questions ran through my mind. i heard, ”i can walk into her office and have my kids diagnosed if i answer the questions right”…. they need to be educated and figure out how all of this works, how my son’s mind works. spending a few hours with him on a holiday or birthday party is not going to show you anything. he appears normal a lot of the time, but he’s not. he is STILL NOT potty trained. he is going on 4 1/2… he has been potty trained 3 or 4 times and back slid each time… he has trouble going to the bathroom, always has. fears and constipation and the kid drinks NON STOP, so i know he is well hydrated. i am now debating on whether to test him, my younger daughter, myself and my husband. i want to know if this is something they have (my daughter is advanced in all that she’s done, i’m not worried about autism, just worried about other issues regarding her health if she carries this)….. any advice is welcome, being hit with hundreds of things at once is never easy, but we’ve GOT to figure out what to do to help him, what’s best, and how we can cope. thank you!

    • Martienne Cotter May 23, 2013 at 2:33 pm # Reply

      Cori,
      I just opted to have my autistic daughter tested through 23 and Me. I decided it was better to know, because treating it is simple, but the problems it causes, when untreated, is complicated. But, I would also suggest finding an Autism support group. When my daughter was diagnosed I found one, and it has given me more comfort than I can even express. I’m not one to reach out for help, so I just joined an online one. But, seven years later I have a lot of amazing Autism-Mommy friends. and I have found that everything we experience is “normal”…including the comments about how we just need to be better moms, and their autism will go away. (roll eyes)

    • Christiane May 30, 2013 at 2:42 am # Reply

      Cori, try probiotics, try to treat your son’s gut system!

    • Lindy January 10, 2014 at 9:36 pm # Reply

      Cory

      Have you considered the FISH test for your son as well? It’s not uncommon for kids who have significant developmental delays to have a chromosomal abnormality, and pediatricians are typically not aware of the link between developmental delays and chromosomal disorders. This was the case with my son — I knew something was different, and I had to push for further testing. He had some similar issues to your son. It was a neurologist who finally ordered the FISH test (years ago). More recently we also learned he has MTHFR gene defects — compound heterozygous — the worst combination. At least we know and can finally treat it.

  36. Christiane May 30, 2013 at 2:39 am # Reply

    Dear Dr. Ben,
    My first son has Down Syndrome and I tested myself for the MTHFR gene mutation before deciding to have a second baby. The result was negative… So, should I have my husband tested too?

    • Dr Ben May 31, 2013 at 4:47 am # Reply

      Yes, absolutely. But – more importantly, you need to monitor and maintain your homocysteine levels and check your urinary methylmalonic acid levels. Down syndrome is directly linked to elevated homocysteine levels during pregnancy. Maintain your homocysteine levels around 7-9 using B12, B2, B6, Methylfolate, TMG. HomocysteX Plus works very well in supporting homocysteine levels.

      • Sophie May 31, 2013 at 4:59 am # Reply

        I’m really in need of the best methylfolate and vitamins to take. I’ve just been diagnosed with homo both mutations and my dr is only prescribing Folic acid 4 mg after 4 back to back pregnancy losses. I’m starting ivf tomorrow and have no clue what to buy that I will benefit from the most. One of our miscarriages was a Down syndrome baby. PLEASE PLEASE can you recommend the best combo to combat a double gene mutation?? The prescription ones say they don’t recommend in pregnancy I did call today.
        Thank you kindly
        Sophie

  37. June June 4, 2013 at 8:12 pm # Reply

    Dr. Lynch,

    I would love to hear your thoughts on MTHFR and eczema. I have not yet been screened for any MTHFR mutations but recent labwork showed an MCV: 99 fL, Folate: 22.3 ng/mL, Vitamin B12: 546 pg/mL, homocysteine 8.4 umol/L, ferritin 36 ng/mL, off the charts IgE of 1405…

    I have severe eczema and I would love any insight on why you may not have eczema on this list, is there not enough data to suggest there might be some causality?

    Some studies that interested me:

    The association between atopy and factors influencing folate metabolism: is low folate status causally related to the development of atopy?
    http://ije.oxfordjournals.org/content/35/4/954.full.pdf+html

    DNA methylation of the filaggrin gene adds to the risk of eczema associated with loss-of-function variants
    http://www.ncbi.nlm.nih.gov/pubmed/23003573

    Thanks in advance

  38. Wanda June 13, 2013 at 11:19 pm # Reply

    I decided (finally) to seek a Dr that knew something about supplements and tried to get to the problem and not just treat the symptoms. Since I have taken all kinds of supplements over the years I was wondering if any of them were doing me any good or did I have expensive urine. She did several blood test which one was the MTHFR, now I had no clue what this was and really still don’t. I felt like I probably did have some genetic”issue” but even after the results (single mutation C677T) still didn’t know what it meant. She didn’t seem to be concerned about it and didn’t go into any detail about it. I was diagnosed with MS in 1993, Hypertrophy Cardiomyopathy in 2012, have osteoarthritis, mitral, tricuspid and aortic valve problems, pituitary tumor diag,1991, osteoporosis and some other issues. Info on Marfans Syndrome & Ehlers Danlos have been brought up by one Dr I saw a few years back,. Soooo what if you have genetic mutations, what can you do about it? I’ve been recently researching some of my family history on my fathers side and have found that I had an aunt that was schizophrenic (this explains a lot with her and some of my other family members!). My father died at age 44 of a severe stroke, (1971). My brother has had 6 heart attacks and 3 strokes. He’s still alive and does for himself. I could go on & on but mostly I would like to know what now? Would I benefit from further testing. When I was diagnosed with MS my spinal tap and the other test did not show that I had it, it was the Brain MRI that showed it, though that was not explained to me at the time. It was years later by another I use a walker, but I believe it’s more from the fact I tore my ACL in my right knee (did not know when it happened). Have had “loose ” ligaments for years. The Dr that did the knee surgery didn’t fix the ACL only the medial meniscus. He said because of my age (54 at that time) and I wasn’t involved in sports I could live without it, I have not kept up with my exercises and I feel that if I did I MIGHT get where I don’t need the walker, really just don’t know if it will ever be 100% again. I’m sorry, I told you I could go on & on. To get back to the Dr that that tested me for the MTHFR, she also tested my EPA & DHA, I just about didn’t have any, I was taking them but not enough,also Vit D only had 46%. I have REALLY researched things over the years but I would get discouraged and just wonder was I wasting my money or was it helping as I said earlier that’s what led me to her.If you could give me some insight/suggestions that would be awesome! Thanks

  39. Rae June 21, 2013 at 3:40 am # Reply

    Hello,

    I have started IV treatments for a B-12 deficiency (amongst others) that I have. I have many digestive issues and have tested positive for the 1298AC MTHFR mutation. Unfortunately, my first treatment made me very ill and my stomach is burning a full day later. I was doubled over in pain last night. Is this common? Can I ask my Doctor to do anything to help me tolerate the IV? Will this get better?

    Thanks!

  40. Jaime July 3, 2013 at 1:35 pm # Reply

    My 11 week old daughter has tongue and lip tie. Does this mean she will have a higher chance of one of the illnesses above associated with the gene? Does my future children have a higher chance as well? Are these illnesses that show up early in life or are the something I may get if I have the mutated gene?

  41. Deborah August 2, 2013 at 11:49 pm # Reply

    Has anyone done any research to determine whether this mutation is found in people with Benign Essential Blepharospasm and Benign Essential Blepharospasm with Apraxia of Lid Opening?

  42. jennifer August 19, 2013 at 8:11 pm # Reply

    I have hashi’s, low progestetone and low adrenals. Just wondering what the first step to finding out if I have mthfr. Should I first see if I have high b12? My sister has had 2 miscarriages, 1 healthy child and a 7 week old who died from trisomy 18. I’m wondering if her issues could be mthfr. Does everyone with mthfr have high b12?

  43. Mr Aidan G Walsh August 20, 2013 at 11:46 pm # Reply

    When I look at the list of illnesses and the damage above, the only thing coming to my mind is ‘internal ionization radiation injuries’ RADIATION EXPOSURE breakage of chromosones translocation…

  44. Kristina August 21, 2013 at 7:42 am # Reply

    Good Evening Dr. Lynch,

    I just found out I have a MTHFR mutation, but was not told to what extent. All my Head Ache specialist told me was that my Homocysteine Serum levels were normal, and that my body has the ability to produce serotonin but doesn’t do anything with it. I also have low Vitamin D, Vitamin B12, B2, Calcium, Magnesium, and Electrolytes. My body does not seem to maintain them. I am being treated for chronic migraine with aura, chronic tension migraine, major recurrent depression, anxiety, fibromyalgia and I believe IBS. My headache specialist made it seem like it wasn’t a big deal and told me to buy some more vitamins and didn’t even tell me what type of mutation I have. I plan on making an appointment and talking to her in person.

    So my next concern is my children. My 3 year old was recently diagnosed with Epilepsy and is taking Keppra at .8 mg twice a day. Since she has been on the medication she hasn’t had any seizures that we know of, but should we have her tested for MTHFR?

    My 10 year old daughter also had migraines. Not at a high rate, but has had them for about 5 years now. She feels sick when she gets them and eventually vomits then falls asleep. And then there is my 16 year old son. He also gets migraines and has stomach aches all the time. I guess I am asking if all of them should be tested?

    What about my siblings and parents? I know my Dad has been told he has Periphial Nueropathy, but no medication has been working for him. His feet and legs feel like they are burning all the time, but he is not diabetic. Some days he can’t even get out of bed, because of the pain. And my Mom has depression and migraines as well as some type of uterine dysplasia and had a hysterectomy at the age of 32. Is this all related to the MTHFR mutation? Anyways, I am so confused and have lots of questions, but still haven’t gotten all the info from my doctor.

    Thank you for listening and for this website!

  45. Tracey August 28, 2013 at 1:53 pm # Reply

    Dr. Lynch,

    My son has a host of problems, his biggest DX are Ehlers Danlos, and POTS. We recently learned he has the MTHFR c677t and only one copy. I was curious on the genetic link of passing it from parens to child worked. Since he has 1 copy does that mean I/ my husband have only one copy or could one of us have 2 copies?I know we should be tested also, mostly me as I have the Ehlers Danlos too. Also, doyou see a connect with having the MTHFR mutation and Ehlers Danlos? It seems a lot of us(EDS’ers) have his mutation.

    • Lynn_M August 29, 2013 at 2:00 am # Reply

      Tracey,
      There are several genetic possibilities for why you have a heterozygous (1 copy) C677T child. You or your husband could be homozygous (2 copies), but not both of you. One of you could be homozygous and the other heterozygous. Or both of you could be heterozygous.

      • Melissa September 20, 2013 at 6:29 am # Reply

        in my case I have 1298 and my son has a copy of 1298 and 677 what would that mean my husband would most likely have?

  46. Adele October 14, 2013 at 5:12 pm # Reply

    Hi there,
    I have asthma, irritible bowel disease, lichen sclerosus, tested positive for ankylosing spondylosis, hypercholesterolaemia and I have had superficial thrombophlebitis. Do you think this is all related? And if so, what is wrong with me? I feel like my body hates me…

    • Lynn_M October 15, 2013 at 5:57 am # Reply

      Your asthma, irritable bowel disease, and ankylosing spondylosis could all be related to gluten intolerance.

  47. Mark Newman November 20, 2013 at 6:19 pm # Reply

    Dr. Lynch,
    I have had a few of my doctors make reference to your work. I test estrogen metabolites and just wanted to comment that when I see low methylation of estrogens (2-OH –> 2-Methoxy) people commonly comment that they have these SNPs. We have a unique type of test that has people test four times throughout the day using dried urine collections. We test individual samples for free cortisol (which parallels salivary free cortisol) and then test a weighted average of the four to give a 24-hour equivalent for all the metabolites (including estrogen). The estrogen methylation piece has been interesting. There is a fairly profound pattern that I am seeing with cortisol that involves epinephrine formation that I’d love to run by you to see how this may play into the neurotransmitter piece. Let me know if you have a few minutes to chat about it. I’d love to get your take on it. Thanks,
    Mark (President, Precision Analytical)

  48. Erin January 28, 2014 at 5:23 pm # Reply

    I’ve been told by several people now to look into MTHFR gene testing for myself and my children. I have spina bifida occulta which wasn’t diagnosed until an X-ray done by a chiropractor when I was 19 or 20. It’s only on my lowest vertebrae, it doesn’t seem to affect me at all, it’s just weird. I’ve recently had some persistent vision issues that led a neurologist to think I had MS, but nothing showed on an MRI. She said I may be in the very early stages but there is no way to tell right now. My maternal grandmother has Parkinson’s. Mental health and addiction issues run in both sides of my family. Myself and others believe that my father and at least one of his brothers are on the Autism spectrum, and possibly their mother as well. I test extremely high for symptoms of Aspergers, higher than my cousin who is actually diagnosed with high functioning autism. My late grandfather had severe dementia. As for my children, my oldest daughter (7) has ADD and was born 6 weeks early. My second daughter (3) has severe asthma (diagnosed around 6 months old), severe silent reflux, Celiac disease, sleep apnea, multiple food and environmental allergies, eczema, and IgA and possibly IgG deficiency which we have been referred to a top pediatric hematologist to evaluate. My youngest (2) has just been diagnosed with Sensory Processing Disorder, severe silent reflux, and pancreatic elastase deficiency, after months of testing to figure out why she was “failure to thrive”. It would be great if there was some cause found that tied all this together, especially if there is a treatment, although I admit I’m a bit skeptical of anything like this. Would the hematologist be the one to ask about testing for this? At least he could test my 3 year old since she will be going to see him anyway, and we can start there.

  49. Sharon January 28, 2014 at 10:48 pm # Reply

    Hello, My family physician strongly believes that I have a MTHFR mutation(s) and I am waiting on my raw data from 23 and me. Among the many serious conditions listed on Dr. Lynch’s list is one that on the surface appears trivial – tight anal sphincter. It can be serious to millions in the world with pelvic pain. Some five years ago I was diagnosed with contracted pelvic muscles, including the anal sphincter, and have been involved in a number of mind-body treatments. I just find it so interesting that it is on this list, as well as IBS. I am trying not to jump to the conclusion that my pelvic pain is caused by a MTHFR mutation. How can I find out more information on this condition and how it may be caused by a MTHFR mutation? Thank you. Sharon

    • Dr Lynch January 29, 2014 at 6:03 am # Reply

      Hi Sharon –

      IBS is definitely ‘on the list’ – I simply haven’t updated it for some time.

      The tight anal sphincter I’d imagine could be related as it sounds like a developmental disorder. I will look into it. It also sounds like a ‘midline defect’ – if identified at birth or just after. If acquired years after, I am not sure if it is connected; however, my knowledge of tight anal sphincter is inadequate. I will keep it in mind as I research. Thank you for letting me know.

      • Sharon January 29, 2014 at 5:06 pm # Reply

        Dr. Lynch, Interesting. I have been thinking of late that it could be a structural problem since I eat well, exercise and take extra fiber. Constipation appears to run in my family since a few members have mentioned it to me in recent years. So perhaps there is a gene mutation. Speculating further, perhaps contracted pelvic muscles in general is associated with a gene mutation. I would appreciate any reserach or information you come across. This journey I am on with the MTHFR mutation and DNA testing came out of left field but it has been very interesting so far. Thank you. Sharon

  50. Susan Reed March 12, 2014 at 5:09 am # Reply

    I am seventy years old and have been suffering from fibromyalgia, hypothyroidism, and another two or three things on your list. If I were to find a doctor who could detect that I have MTHFR, what can be done to help relieve the problems? Thank you very much.

  51. Dr. Deborah Epstein March 20, 2014 at 4:55 am # Reply

    In your copious spare time :) I wonder if it would be worth getting a Bastyr student or someone to organize the list of conditions by organ system. I’m still getting my feet wet with studying this material, but that might help folks make more sense of the list, in a less monolithic way, especially as the list continues to be updated.

    Thanks for organizing all the information here!
    Dr. Deborah

    • Dr Lynch March 20, 2014 at 5:11 am # Reply

      Hi Deborah –

      The entire MTHFR.Net website is going to get a major overhaul. I’ve expanded WAY beyond MTHFR – while it is a very important gene, it is definitely not the only one we need to concern ourselves with ;)

  52. Lindy March 20, 2014 at 2:23 pm # Reply

    HI
    Is there any information about the TCN2 gene defect on this website? I have a homozygous mutation (GG). How common is this? What problems does it cause and what is the solution? My MTHFR is 677T/677C. Thanks.

  53. Erin March 20, 2014 at 2:38 pm # Reply

    I spoke to my daughter’s hematologist about this site. He is one of the top in his field and has personally done extensive research on MTHFR gene mutations. He says the claims made here are not backed by science. Apparently there has been no conclusive evidence that any of these conditions are linked to these mutations, and that the recommended treatments do not work. His team found ONE boy with autism whose symptoms could possibly have been linked, but treatments did nothing.

    • Lindy March 20, 2014 at 4:40 pm # Reply

      Erin
      My son became extremely ill and almost died due to toxin exposure. He’s had several of the symptoms listed here — neurological and pulmonary. In the course of getting him treated, we found out he was compound heterozygous. I also have 2 kids with midline defects, and a niece with a midline defect (split uterus). Knowing that I carried one of the defective MTHFR genes, my son’s doctor urged I get tested. When I contact local geneticists, they expressed the “current thinking” regarding MTHFR — that it wasn’t much of a big deal. I replied I couldn’t disagree more, since my son almost died due to having this defect with toxin exposure. He’s also at risk for blood clots with this condition. Why wouldn’t we want to know and treat this? I don’t know why, but some doctors are highly opinionated and since they already know it all, they can’t learn much new. My son is being treated and takes methyl B supplements, and he is definitely doing better. I’ve shared the MTHFR information with parents of autistic kids in my community and they’re EXCITED to learn this and will be following up for their kid’s sake. We live in a world of toxins — many of them pushed on the public by Monsanto and Big Pharma. It’s no surprise more people are getting sick — especially those with severe MTHFR mutations. We’re enjoying better health as a result of this info.

  54. Lindy March 20, 2014 at 5:07 pm # Reply

    Oh — by the way I canceled the appointment with that geneticist. Why pay and travel 60 miles to argue with yet another arrogant, stubborn doctor? I would have had to make a second visit just to find out the results (that is IF the doctor tested the MTHFR gene — but he probably would have ignored all the other methylation genes which would have been a mistake). In fact, when my son was sick we saw one IDIOT (called a neurologist) who wanted to do brain surgery for toxin exposure! (we dumped him immediately and my son felt like punching the guy!) I spared myself the aggravation and paid $99 for testing at 23andme.com and used Sterling’s app to find information on the methylation genes. And it’s much more fun, too, since I learned about ancestry and lost relatives.

  55. Lillian March 20, 2014 at 5:08 pm # Reply

    I had 4 PE and I’m only 31 years old and I have 2 kids when I was pregnant I was diagnosticated with the MTHFR and my older son too, he’s only 10 yrs old. My question is He could develop clots at early age? He need treatment now? I been in Coumadin since I was 17. Please I need advice.

  56. Amanda Joy April 7, 2014 at 1:41 am # Reply

    I am confused, in reading this list I do not see Hashimotos, Hypothyroidism, or Autoimmune disease. I belong to a Hashimoto’s Facebook group where MTHFR is spoke of a lot. I was tested because of the recommendations from there as the MASS majority of people that have been tested are + for MTHFR. As it turns out I have the very rare triple mutation as well as many more mutations. I sent my family information about all this but then noticed that there is no mention of these conditions on this list. Is there not a link?

  57. Maureen Healy April 20, 2014 at 6:36 pm # Reply

    Have you looked at FSHD (www.fshsociety.org) as also having a link to mthfr? Thanks, Maureen

Trackbacks/Pingbacks

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MTHFR, Depression, Pulmonary Embolisms: A Consult with Dr Ben

Listen to the 30 minute phone consult which Dr Ben Lynch held with a women diagnosed with an unspecified MTHFR...

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