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 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 (not associated)
  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:

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

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

    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.

    • Kim April 2, 2017 at 11:32 am #

      Hi Erin. I’m sorry to read of all the illnesses your family has suffered from. I can’t answer all of your questions but urge you to have an IBCLC assess your children for ties as these cause reflux and sleep apnoea, and are linked to food intolerances. Doctors won’t be able to help you as they are not trained to assess ties. You may like to go to tonguetie.net and drghaheri.com for more information. Please ask any IBCLC you consider hiring to give you a summary of their understanding of ties, particularly the posterior tongue tie. It’s worth knowing that ties and Spina bifida are associated with mthfr.

    • susan June 29, 2017 at 4:16 am #

      You are a very bright woman in spite of all your challenges! Could not help noticing that as I was reading this the correct spelling grammar and clarity of the writing especially hard when one is under such stress – It is one thing to find out about this MTHFR but just think of all the other genetic SNPS that are not even getting talked about yet – does help to hear that all these symptoms syndromes illnesses issues and especially addictions have real reasons beyond our control. I am just trying to assist 1 adult child with allergies(food and environ) asthma chronic sinus/ear/vertigo Diabetes Type 1 (no family history) Hashimoto’s Scoliosis Mouthbreather possible Mold Metal Lyme +EBV IgG deficiency (that treatment is daunting and expensive) what are we going to do if the government starts forcing more vaccines on babies??!! I fear for my future grandchild

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

    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 #

      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 #

        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

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

    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.

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

    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 #

      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 😉

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

    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.

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

    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 #

      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.

      • Astrid March 5, 2017 at 10:00 am #

        Hi lindy I’m reading your response on mthfr gene. My son matthew was diagnosed with autism 2 years ago. My toddler nearly died from a vaccine at 9 months. We never knew about toxins..about vaccine injury
        .about gene mutation

        .storks bite…none of it. I was tagged in a post on face book and now have more worries on top of my worries. Please let me know what you have done to help your son.

        Astrid Ferreira
        South Africa
        CAPE

      • Bonnie June 4, 2017 at 4:12 pm #

        I know this was three years ago but if you happen to get back on I would love to speak with you. It sounds like you are well versed and know all about this stuff. I am lost and confused about it all. It is a lot to take in and figure out! chadsmum@yahoo.com

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

    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.

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

    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.

    • Lorinda May 17, 2017 at 8:29 pm #

      Lillian,
      I realize that you asked this question 3 years ago, but have you been tested for Factor V (pronounced 5) Leiden? I am heterozygous for that

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

    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?

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

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

  11. Connie April 26, 2014 at 9:22 pm #

    My 18 year old daughter was just diagnoses with the C677T mutation. I will be tested in a few weeks as we have generations of thyroid issues. My daughter has been on depression medications for 1.5 yrs and none have worked more than a few weeks so doctors are getting really tired of me showing up on their doorsteps to try something new. She has been suicidal, done partial hospitalization and no one could really find anything wrong with her but possibly borderline personality disorder.

    Her psychologist kept saying that she believes my daughter had a thyroid issues especially considering our family history. We went to a nurse practitioner who looks out side the box. She asked if we could test for MTHFR and I decided $82 was a small sacrifice compared to the thousands of dollars spent to no avail. She called 2 days ago and said she has the mutation. Wow, finally something that could be contributing to this depression that no medication seems to touch. She said she should start feeling better within days.

    Of course, with all these medications, sleeping 24 hours a day when possible, she has gained about 50 pounds in the past 2 years even when she barely ate a thing all day. Her TSH numbers were above 3 but no one around here will treat someone with those numbers. My numbers are 3-5 on every test and no one will treat me either. It’s considered normal but I feel nearly as bad as my daughter does.

    Her biggest concern is whether she will begin to be able to lose weight now that she is taking Deplin and NAC along with Vitamin D, Iron as she is anemic and B12. I have walked 100 miles in a month, stuck to Weight Watchers 100% and unable to lose even one pound. She doesn’t have the energy to even try to exercise. Can she expect to be able to begin losing weight with these medications and supplements?

    • Lindy April 28, 2014 at 10:12 pm #

      Hi Connie

      As a fellow hypothyroid sufferer myself (and very extreme hypo), your daughter’s symptoms are consistent her being severely under-medicated. In my own experience, TSH is very unreliable, and if her doctor isn’t looking at THYROID hormones, including Free T3, Free T4, he is doing a poor job. Seriously consider finding a better thyroid doctor and educating yourself more — Mary Shomon has a website. I have been severely under-medicated and made ill in the past by doctors relying solely on TSH (a pituitary hormone) while ignoring my thyroid hormone levels. It’s shocking your daughter is sleeping 24 hours, gaining weight, hardly eating and her thyroid doctor is clueless. I’ve been there myself — wanting to sleep all the time, HORRIBLY tired, taking a few bites of food a day and gaining weight. Food tasted like cardboard. These are symptoms of EXTREME HYPO. EXTREME HYPO is not compatible with life. Seriously — find a COMPETENT thyroid doctor who knows what they’re doing. EXTREME HYPO can kill, left untreated or under-treated. Go to Mary Shomon’s website, do some homework and find a doctor who can recognize the clinical symptoms of extreme hypothyroidism — not just the TSH. It’s so STUPID when these doctors rely on TSH only.

    • rr May 5, 2014 at 7:13 pm #

      I am the exact same as what you have described and always felt it was related to my thyroid. I have the double error on the A1298C. Was prescribed Deplin and exactly as how Dr Lynch has said and described over and over on this site, the Deplin was way too high of a dose of methylated folic acid. Taking Deplin is, in essence, like taking antidepressants and add to that the possibility of having COMT, MAO, VDR. or CBS errors, you can have any array of horrible side effects from the high amount of methylated folic acid that Deplin is. I tried quartering the 7.5mg tab (ps, they are switching to capsules only so you wont be able to cut doses) and that wasn’t even good enough. I had to stop taking it—-too much irritability/agitation and muscle pain it was causing. I also have tried most antidepressants and everything made it worse except for one that only influenced Dopamine. I always knew there was something to that and come to find out, because of my genetic makeup, I have low levels of dopamine. PS, most Psychologists/Psychiatrists only know the basics about Deplin which is only what the manufacturer’s marketing info is. If you look it up, Deplin is marketed as a supplement to help your antidepressant be more effective; in reality, it is working like one because your body is now ramping up on making serotonin, norepinephrine and dopamine with it. I believe they are marketing it so simply because then they do not have to do all the studies on it that they would if they really explained how it works.

    • Karla Morris May 16, 2014 at 8:36 pm #

      I apologize for replying to your post; was not sure how to ask a question. My question is; would a dx of homozygous c677t cause me to have an elevated MCV count? Even though tests show that my homocystein levels are normal and that I have no vitamin deficiencies would my mutation cause a really high MCV count? And, would I have other symptoms/conditions relating to this mutation, such as chronic fatigue, even though my homocystien levels are normal?

    • Connie May 27, 2014 at 9:33 pm #

      Now that it’s been a few weeks since I posted, I wanted to update. My daughter started taking Deplin 15 mg and NAC (600 mg twice a day) and the change in her is amazing! She is still tired but her mind was clear within 2 days of taking Deplin.

      She is still gaining weight but from my reading, it’s the antidepressants which have contributed to the weight gain. We are weaning off of 40 mg of Lexapro and 15 mg of Abilify. so far, she is handling the lower doses of 10 mg of Lexapro and 10 mg of Abilify just fine. We will continue to lower the doses over the summer.

      By the way, I have the genetic mutation as well and I’m having my husband tested. As I have never had depression, I only take NAC twice a day. I did have several miscarriages years ago but other than that, I don’t have the significant symptoms that my daughter has experienced. I am also taking Armour for my thyroid as my test results indicated that I needed to be medicated. I’m only on 15 mg and have notice no differences so far.

      Anyway, just wanted to update the great results we are getting.

      • Dr Lynch May 28, 2014 at 4:03 am #

        Hi Connie – that’s great news 🙂

        Keep an eye on her as the 15 mg Deplin is pretty potent. She may be doing well now but in a week or two, you may – or she may – see that it is too much and need to reduce.

        If you’ve not noticed anything with 15 mg Deplin, you may be B12 deficient or need to eliminate all dairy products from your diet – and all folic acid supplements.

        • Connie May 28, 2014 at 4:49 pm #

          Thanks for your response. She has been on Deplin since April 26th and every day there is a noticeable improvement. She is currently taking B12, Iron, Deplin, Vit D3 along with 10mg of Lexapro and 15 mg of Abilify. I am not trying to wean her off of 40 mg/day of busperone as anxiety was what started the downfall in the first place.

          We are working hard to eliminate folic acid as much as possible. The only thing she has noticed is when I tried to reduce Abilify to 10 mg, she was shaky. Laura Dankof of Mercy Hospital Des Moines is the nurse practitioner who is seeing her. Check out her blog and you can read my daughter’s story and other helpful heath information. http://www.pathtohealthandhealing.com/blog/

          Laura did extensive testing to see what deficiencies my daughter suffered from, which vitamins and minerals she was lacking. I feel very confident that I have my daughter back for good now and even better than before!

          I also have the mutation but have only suffered some miscarriages in the past. I am only taking vit D3, B12, iron and NAC and my thyroid issues that no one locally would treat despite my high numbers (they were going with the pre-2003 standards of TSH of 5 or above), are being treated with Armour. she started with 15 mg which I’m sure will not be sufficient to correct my thyroid issues but she said we will recheck in 8 weeks to see.

          The information on this site has been so helpful. I never dreamed my daughter would literally wake up just a couple of days after barely being able to make it through an hour of school a day.

        • Rebecca April 7, 2017 at 7:52 pm #

          What’s the connection with dairy? My daughter is taking 7.5 mg of Deplin, a B12 chewable and her daily vitamins. She sometimes gets an upset stomach with dairy, but I hadn’t connected the MTHFR mutation with the dairy yet.

          • Dr Lynch April 11, 2017 at 3:54 am #

            Folate receptor antibodies – you can watch this video where I explain about L-methylfolate and I also explain about the antibodies –

      • Stefanie January 31, 2017 at 6:18 pm #

        It’s the Abilify that’s making your daughter gain weight. Find a different medication to treat her, if possible.

        • Melissa April 20, 2017 at 3:15 am #

          My son gained 30 # in just a few months on Abilify. when he went off Abilify he lost the weight immediately. That medication is know for causing metabolic syndrome.

  12. Alicia May 21, 2014 at 3:34 pm #

    Hi! I am compound heterozygous and learning a lot about how my mental illness, chronic pain and dystonia is related to MTHFR mutation. I have started taking supplements and have noticed great improvement in chronic pain and mental health and have come off of 3 of 5 medications I take to manage symptoms and hope to come off all medications soon. I have reached out to he Lyme community (I also have Lyme disease which is the only reason I tested for MTHFR) and many of them have a lot of problems with food allergies which I believe comes from an autoimmune disorder bc they have severely limited their diet. Would the MTHFR mutation have anything to do with food allergies?

  13. Melissa Sliva May 24, 2014 at 3:16 pm #

    What about a connection between MTHFR mutation and low cortisol?

  14. Kelly June 10, 2014 at 6:07 pm #

    I started taking the Seeking Health Optimal Multivitamin Capsules 5 days ago & am now having an interstitial cystitis flare up. I had this often as a kid, but rarely as an adult. I was diagnosed with Lyme Disease 4 yrs & figured the 2 were related.

    I have been taking MTHFR supplements on & off for several years depending on finances, but this is the first time that IC symptoms have appeared.

    I’m wondering if you have any ideas about how the Optimal Multivitamin might be related to this. Apparently, increased histamines can be a factor in IC, but aren’t the supplements supposed to decrease histamines?

    Any suggestions?

  15. NK June 12, 2014 at 1:34 am #

    Dr. Ben~

    I’ve been tested and found to have a mutation (MTHFR). As I’m reading about many other women diagnosed with this mutation, I relate to the numerous miscarriages they have mentioned experiencing. I’m coming to the understanding that having a child is most likely not an option, but possibly adopting would be.
    I do have a concern that I wonder if anyone else can relate to, as I have not read anyone mention these weird symptoms I have when I have been pregnant. Early in my pregnancy my skin feels very dry, like I need to moisturize the heck out of my skin. Also, I get more thirsty, even though I’m still drinking plenty of water, which is mostly what I drink all the time. And, I notice that I have more headaches coming on, when I normally don’t have any. I do take 5mg of L-5-MTHFR every other day, and a multi-vitamin everyday.
    Only reason I’m reaching out to ask anyone about this is because the few doctors that I have seen do not seem very helpful or knowledgeable, which is really frustrating. I just don’t know what else to do.

    Thanks for any and all help you or your readers can provide!

  16. stephanie A July 4, 2014 at 11:09 pm #

    Hello Dr Ben….

    I have an exstensive medical problems since 2001.. I was hospitalized with lyme for a week and treated just for one week with IV. Four months later I wad diagnosed with Multiple Sclerosis . I have every symptom associated with MS. Three years after that I was also diagnosed with lupus. I am having fertility problems also. Now I fjnd out I have both gene mutation.. can having MTFHR ex one of thoes diagnosis out? Or can I have all of them? At this point if whatever is not found and treated I feel I will die. Where do I go to get a ful body and blood check? Iam in the US . I take copaxon 40 mg 3x a week, nuroten 1200mg daily, plaquinel 400mg daily, meloxicam 7.5 daily, xanx 1mg daily, baclofen 10mg daily, captopril 25mg twice daily, and tramidol 50 mg as needed. I cant take any more I am in my late twentys.. please what do I do.,

    • Vee May 1, 2017 at 1:41 pm #

      Stephanie, I realize this is a very old post….
      By now I am hoping that you have found a Lyme Dr to treat you for the Lyme. Classic MS then Lupus diagnosis when Lyme becomes chronic and left untreated!!

  17. Ruth Peterson July 17, 2014 at 10:07 pm #

    Have any links between MTHFR and ADHD or Autism been found? My son, 7, has ADHD, anxiety, is on the Autism Spectrum. My daughter, 5, is ADHD, sensory issues and developmental delays. We are still working on diagnosing her. Both have a MTHFR mutation and some other things. My son has a 7q35 microdeletion, but my daughter was never tested. Thanks-

  18. christine mcgrath August 1, 2014 at 8:11 am #

    Hi Dr. Ben, I have Dercum’s disease. There is a long list of painful symptoms associated with it, however,I have not really been properly tested for other diagnosesis. It is beleived that my 10 year old has a slow growing glioma in the thalamus and there is also a question of chiari 0-1 for her and my 7 year old. My 16 year old has had past episodes of what we believe was angiodema. Both girls, 10 and 16, as well as myself get migraines. We each get different types of migraines. My side of the family from grandmother down has: vascular and heart disease, diabetes, lupus, krohns, irritable bowel, inter cystal cystitis, disc and nerve problems. It is like the typhoid Mary gene gone wild that adapts itself so it can hide all kinds of things. My family and i can’t get the proper help we need.

  19. Sabrina August 8, 2014 at 9:45 pm #

    Hi, I was just diagnosed with heterozygous MTHFR c677t. I had a dvt/ pulmonary embolism this past feb.. For no apparent reason and no risk factors- I’m 27). I had my hematologist test me last week for MTHFR among other disorders that may cause clots. I’m very confused and a little upset today when my doctor called to give me the results.

    He said having heterozygous MTHFR means absolutely nothing (medically irrelevant) as he said in terms of the mutation ever causing me symptoms or clots or even any deficiency. He said I’d have to have two copies of the gene mutation or be homozygous to be considered a health condition. I was all ready to buy methyl folate supplements in hopes it would help my body with the mutation since I experience many odd symptoms my whole life like fast heart rate, migraines, severe anxiety, losing hair, stomach issues, tiredness, allergies, etc. Is it true then that because I only have the ONE copy of MTHFR mutation- that I will have no symptoms or related conditions? Here I thought it was possibly my answer to my health being the way it is but the doctor said no- no relation. And doctor also said no supplementation needed since my homocystine levels have been normal (8.8).

    I would think if a gene had a defect that it would somehow effect the body somehow- whether mildly or moderately? Am I totally wrong? So should I still take the supplement or no?

    • Ann March 23, 2017 at 11:49 pm #

      I just finished watching a 9 day series called The Thyroid Secret by Dr. Isabella Wentz Many of the symptoms you describe sound like symptoms of thyroid disease.
      Many of the people in the series did not find relief from conventional doctors but in looking for a doctor they found what is called a Functional doctor that was able to help and recovered their lives through the Autoimmune Paleo diet, supplementation, exercise, and some prescribed medication. She has written two books on Thyroid disease. Just google her or look her up on Facebook.
      Ann

  20. Jordan September 9, 2014 at 7:26 pm #

    The article linked next to #49, “Premature Death”, indicates that the associated study found that a MTHFR mutation was *not* associated with premature death:

    “This finding does not suggest that the C677T/MTHFR mutation is a strong risk factor for diseases frequently leading to premature death.”

    • Dr Lynch September 11, 2014 at 6:58 am #

      Some studies do – and some studies don’t. The mechanism of how MTHFR defects affect biochemistry – that is what we all need to understand – and that is what can lead to premature death.

      • Al C. May 5, 2017 at 9:54 pm #

        Dr. Ben, would you please link this to a study which DOES support your contention that MTHFR can lead to premature death?

        • Dr Lynch May 10, 2017 at 1:46 am #

          Premature death? I don’t think I said this did I? If I did, I’m wrong. Definitely contributes to increased risk for various conditions but premature death is pretty broad.

  21. Susan Rogers September 19, 2014 at 12:18 am #

    Dr lynch
    I have struggled for the past 10 years thinking I was going a little crazy. I was tired all the time. I recently found out that I have the c667t and the a 1298c mutation. My endocrinologist was participating in a gene study to better determine how the medications that were prescribed were being utilized by the body. Needless today I was shocked to see the results. Looking at the list and reading about this mutation and how it affects the body has literally changed my life. At first I I just couldn’t believe that all the complaints that I had been having could have been so easily overlooked and ultimately treated easily. I have spoken to my doctors and have been very disappointed by there lack of interest or knowledge, not really sure. I’ve been diagnosed with hypothyroidism, pcos – even though I have normal testosterone levels, have no hurstism, and normal ovaries. I am insulin resistant and about 45 lbs overweight even though I have tried everything to lose the wieght. Thank you for giving such a informative site and a protocol to follow. My question to you is. I have started to take a folate and b complex ( the correct form) listed by you and added niacin. I am currently on metformin and am trying to wean off due to the negative side effects. Will I need to increase or decrease my supplements. I started with 3 mg of folate but cut back to 1 mg after I started having some negative side effects

  22. Beverly Padnuk September 19, 2014 at 3:46 pm #

    Dr. Ben, My 34 year old adopted daughter just found out that both of her parents have the MTHFR genes and she now had been diagnosed with it. She has been unable to find a doctor in her area that specializes in this. She does not have insurance which also complicates the problem. She has been sick for several years with problems that all testing came back normal until she found out she has the MTHFR. She is unable to function in daily tasks. All she has the energy to do is sleep. She lacks any emotions and feels depressed and stressed out to the max. What can I do for her? She lives in Pittsburgh, PA Do you know of any doctors in that area that could help her? She keeps telling me that no one knows about how to treat it. I live in Florida so I am not able to be there to physically help her. I am at a loss.

  23. Elizabeth October 6, 2014 at 11:09 pm #

    I am homozygous for the MTHFR 667T mutation [I found out in relation to genetic testing after recurrent miscarriage] but my homocysteine levels are fine. Should I assume my mutation is not causing me problems or should I look at something else? My main issues are anxiety, insomnia, and general fatigue. My Dr. is happy to prescribe antidepressants but I don’t think that’s it.

    thanks!

  24. Delania October 22, 2014 at 9:04 pm #

    Hello Dr. Lynch,
    I would like to schedule a consult with you regarding a genetic mutation in our daughter. Please advise how I may go about this. Your work is inspiring and I look forward to your insight into our healing journey.

  25. david October 27, 2014 at 4:13 am #

    Well I’m getting this test tomorow. I see the list of conditions that follow is pretty depressing. I would have lived a lot better if I never knew of this. I avoid wheat and dairy products I’m 26 and felt a million times better when I smoked ciggeretes and ate junk now I can look forward to getting a disease from this. Isn’t that something

  26. Karen Nichols October 31, 2014 at 5:17 pm #

    Thanks for reading my question! My son has MTHFR mutations on 677 and 1298 ( one each) and has struggled with severe seizures for 5 years. He is now 10 years old. Recently, we found he has VERY high folate receptor antibodies ( 5.5 pmol) and likely has cerebral folate deficiency ( have not yet done a lumber puncture to determine, but not sure we need to). I am giving leucovorin to see if it might help. We are now at 50-60 mg/day and it is not helping very much ( he is getting mentally foggier and we are seeing more subclincal seizure activity). I wonder if he needs methyl-folate rather than follinic acid due to his MTHFR issues ? We do give MB12 1x/week, but I wonder if we need to add any other supplements to help with this. Any other testing you might recommend? Thanks again

  27. Rita November 22, 2014 at 11:02 pm #

    Thank you for the brilliant work you do and for sharing it so freely!.
    Just found out I am one of those with 70% less methylation which may account for the rare progressive demyelinating disease I have for which there is no known cause or cure until now of course! TY, TY ,TY!

  28. SLee November 26, 2014 at 5:18 am #

    My mom had Parkinson’s and now my brother has MSA (like parkinson’s but…). I have discovered have the A1298C with one copy. I have a number of problems but I am at the monent wondering is it possible that my brother with MSA has this gene issue and is the cause of MSA? I have shared the gene issue and he will be sharing it with his doctor.

  29. Corinne English December 1, 2014 at 6:48 am #

    I have mutated MFTHR gene and had a baby who suffered an in uterine stroke. He has the same mutated gene. Would this cause the stroke?

  30. Madeleine December 2, 2014 at 10:55 pm #

    My psychiatrist of 8 years, has ordered the MTHFR test today. In 2006, he recommended using supplemental Folic acid of at least 80mcg/day. i am not sure of the reason, though I believe that chronic inflammation (idiopathic), significantly decreased energy levels despite various medical interventions. My neurologist put me through the ringer of numerous blood tests, at least 30-40, attempting to discover underlying causes of generalized, chronic inflammation, and nerve pain involving my entire body and bodily functions. To date, the only lab test with abnormal results, was an elevated B1 level. Other diagnostics revealed small fiber neuropathy (idiopathic at this stage)
    My question is if i test positive for this mutation, which my doctor believes i will due to an unsuccessful trial of L-Methylfolate, does this in any way correlate with my recent diagnosis of small fiber neuropathy confirmed with skin biopsy?

    • christine January 30, 2015 at 2:47 am #

      Madeline, Hi. there are diseases such as Dercum’s disease that describe a lot of your symptoms and won’t show up on normal labs that typical Dr.’s would order. What’s more is that it is believed that Dercum’s disease is a combo of more than 1 mutation which is why it has not yet been identified genetically. Those DD patients who have completed the 23 and me tests all show abnormalities. Hope this helps.

      • Madeleine March 23, 2015 at 8:19 pm #

        Thank you Christine, for you response. I did test positive for MTHFR homozygous C677T. Began Seeking Health protocol recommended by my doctor. Has been significant improvement in small fiber neuropathy, though finding little improvement with other symptoms/issues. All this info. has been a bit overwhelming. Have made numerous environmental and dietary changes as well. Will continue to self educate and improve my health. There does not seem to be any doctors in my area with even the basic knowledge of MTHFR.

        I know little regarding Dercum’s Disease, but I will check, in reference to C677T. And I will find out more information about the 23andMe tests. Again, thanks for your response.

        • Madeleine March 24, 2015 at 1:11 pm #

          Hello Christine, I had the chance last night to review Dercum’s Disease. It appears likely that I may I’ve DD. The symptoms I first listed here are all there, plus the mainly that I did not list…like painful, localized, areas of fat, with small painful nodules. These areas have a different laxicity than other areas. Also have had both this, painful lipomas in same areas, as well as other symptoms for as long as I can remember. Thanks for the info. I have been working with a neurologist for just over a year. He has done all the testing to rule everything else out. I will bring this info with articles from Dercum’s Society website, and the Patient Handbook also available from The Dercum’s Society website. Once again, thank for your interest, response and insight.. Do you thunk I still require additional genetic testing?

          • christine March 24, 2015 at 1:42 pm #

            Madeleine, I do wish you the absolute best. There are many online support groups that are beneficial…..there are also treating Dr lists on some of the sites but take that with a grain of salt…..also you should really look at FDRS (fat disorders research society website) but more importantly Dr Karen Herbst page at lipomadoc.org and try to schedule an appt with her to confirm diagnosis – she treats 4 rare/ adipose tissue diseases and is booked months in advance. Most of us who are not diagnosed by her are usually diagnosed by dermatologists or radiologists. I have tried repeatedly to get genetic testing for myself personally as well as for my kids but…..to no avail! They are not interested in us, there are not enough of us for them to take us seriously. Most testing won’t help us…it is not designed to see what is going on with us b/c we are….not standard.

            http://dercumsresources.com/2013/06/29/newly-published-article-on-dercums-disease-imaging-mriultrasound/

            This site has some of the most accurate and up to date info about DD. Hope this helps you in some way or another.

            https://dercumsdiseaseresearch.wordpress.com/

  31. Toni December 8, 2014 at 5:31 pm #

    I just visited http://www.23andME.com to order the tests and here is what’s listed as of November 2013:

    “We no longer offer our health-related genetic reports to new customers to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.

    At this time, we do not know the timeline as to which health reports might be available in the future or when they might be available. ”

    Do you recommend any other labs for these tests?

    Thanks,
    Toni

    • Dr Lynch December 9, 2014 at 4:34 am #

      Toni –

      Order the 23andme test and disregard that.

  32. lisa December 28, 2014 at 6:38 am #

    What about a link to autoimmune diseases? I have hashimotos and have read that 40-50% of prople with hashimotos have the MTHFR gene mutation. This fact prompted me to get tested. I now know I am heterozygous MTHFR c677t.

  33. Stephanie January 5, 2015 at 4:34 pm #

    Hello,

    I recently found out that I have the heterozygous form of MTHFR. My doctor decided to order this lab on me after experiencing symptoms of numbness and heaviness to my left side. I have had numerous tests done (brain and spine MRI, CT of head, blood draws, saw neurology and cardiology) and so far everything has been normal. Although those specific syptoms have subsided, I also developed pain in my joints and bones. My question is, because my doctors can’t figure out what is wrong with me, can it be due to this gene mutation? My PCP thinks because I have been under a lot of stress lately, my body was overloaded and could not compensate correctly. Please help!

    Thank you!

  34. Muriel January 7, 2015 at 4:50 am #

    I was diagnosed recently with one of the mutations and this helped me put an end to the eczema that was plaguing me – it turns out it was caused by the folic acid buildup in my system. After removing supplements contaiing folic acid and all food items containing enriched flour and folic acid, the eczema cleared in just a few days – after years of issues. If I have one enriched flour product, the eczema flares up again – no issue with wheat products otherwise. So i think it is safe to add eczema to the list of conditions… I’m probably not the only one out there.

    • Dr Lynch January 9, 2015 at 9:08 am #

      Thank you for sharing!

    • T Brown January 12, 2015 at 6:37 pm #

      May I ask which mutation you have? I’m homozygous for A1298C and had one of my daughters tested and found that she’s heterozygous A1298C. The reason I had her tested after I found out about myself was because she’s always had an intermittent eczema-like rash among a few other things. I’ve removed the folic acid from her diet, but we still battle some rashes and breakouts. I have not supplemented her with methylfolate as of yet because I can’t get my hands on a good supplement and getting the dose right will still be a trial. Do you supplement with any methylfolate? If so, can you tell that it helps with your eczema as well?

  35. Nelwyn January 9, 2015 at 2:44 pm #

    Elizabeth above posted just about the same symptoms that I have regarding fatigue and anxiety as well as recurrent miscarriage (I have had 5 late missed miscarriages between 11-16 week gestation and 2 early miscarriages, 2 live normal births). I have 2 copies of the A1298C mutation. My last two pregnancies I was treated with ASA 81mg Qd, Lovenox 40mg IM QD the second to last pregnancy and Lovenox 40mg twice daily the last pregnancy as well as taking Folgard which I alternated with the active form of folic acid combo Methylfolate with the necessary B vitamins. Even with that prophylactic treatment both pregnancies where found with no fetal heart tones at 11 and 13 weeks gestation. I’m just not sure if this was the appropriate steps to take since all my labs were normal for homocysteine, folic acid, etc., and I had no positive labs for any type of clotting or bleeding disorder. Its so frustrating not knowing what to do. Please share any helpful information or possible recommendations. Thanks

  36. T Brown January 12, 2015 at 4:36 pm #

    I am homozygous for the A1298C MTHFR mutation. I can probably match most of the weird symptoms and issues that I’ve had over the years to having this MTHFR mutation and not knowing it. Anyway, recently my biggest problem has been cholinergic urticaria – I break out in painful itchy hives across my neck, chest, abdomen and arms every time I take a shower regardless of any variable. I’ve been taking Zyrtec daily for over 3 years to just be able to shower/bathe. As of a few months ago, a found out about this mutation and have avoided folic acid fortified products and have been taking 1mg of methylfolate (along with B12) daily. My allergic response diminished, but was not fully gone. I started doing some more reading on this whole subject and realized that perhaps I was in need of more methyl groups to help remove the excess histamine in my body. I also have had GERD requiring a PPI for coincidentally about the same number of years. So, as of a week ago, I increased the methylfolate supplement to 2mg daily. At the same time I stopped all cetirizine and omeprazole. I’m super happy to report that as of right now, I have no itchy rash at all after a shower. I’m also happy to report that I don’t have heartburn either!

    Now, moving forward, I have a question. Do I continue with the 2mg methylfolate since it’s working? Do I go back to a lower methylfolate dose? Do I stop supplementing with methylfolate altogether?

    Thanks for reading (and hopefully responding).

  37. Darrell January 14, 2015 at 5:23 pm #

    Dr. Ben,

    In October of 2010, I took a 5 day course of Bactrim and my life has never been the same. Prior to this event, I was a healthy 220 pound athlete who worked out 5 days a week. 4 years later, my current weight is 187 pounds and am unable to lift much of anything. My symptoms include daily nausea, weakness, severe muscle cramping and twitching, fatigue, ibs, tinnitus, abdominal pain etc. I’ve been gluten free for 3 years and have been on the Paleo diet for 2 years – but neither has seemed to help much. I’ve spent thousands of dollars on a battery of tests, conventional and non-conventional, over the years with no definite diagnosis. I recently tested positive for MTHFR1298 – T/T – could there be a correlation? If so, did the Bactrim trigger it and how do I fix it? Thanks for your time.

    Darrell
    Houston, TX

  38. Darrell January 14, 2015 at 5:28 pm #

    Correction – I tested positive for MTHFR677 T/T

  39. Sandi January 19, 2015 at 6:32 pm #

    I am compound hetero & used Lovenox to stay pregnant, but have not been treated otherwise. I do have low Vitamin D so I am now researching to see what else I have that might be due to this… I’d like to add or remove whatever foods or vitamins will make me stronger. Is it worth getting further testing with 23 & me?

  40. Julie thornock January 26, 2015 at 10:57 am #

    Dr. Ben, thank you for this site! I h have been tested and diagnosed with a double mutation. You list as possible conditions several things each of my family members have died from. You also list addiction to alcohol, tobacco, and drugs. I believe I have a food addiction with all the same behaviors of an alcoholic. My question is, will talking the l-methylfolate with the addition of the other B vitamins in time control or eliminate the physical aspects of addiction (I understand the emotional aspect has to be addressed)?
    Julie

  41. Lisa Bluemel January 29, 2015 at 5:26 pm #

    On the list of possible conditions, it says “Down’s syndrome”. If this is truly an article, written by Dr. Lynch, please note that it’s Down syndrome. Singular. This spelling is backed by the ndss.org website: “Down vs. Down’s – NDSS uses the preferred spelling, Down syndrome, rather than Down’s syndrome. While Down syndrome is listed in many dictionaries with both popular spellings (with or without an apostrophe s), the preferred usage in the United States is Down syndrome. This is because an “apostrophe s” connotes ownership or possession. Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it. The AP Stylebook recommends using “Down syndrome,” as well.
    – See more at: http://www.ndss.org/Down-Syndrome/Preferred-Language-Guide/#sthash.6NTm10TC.dpuf
    Thank you for your attention to this matter.

    • Dr Lynch January 29, 2015 at 8:55 pm #

      Thank you – will correct!

  42. gabrielle February 28, 2015 at 8:03 pm #

    I have been trying to talk to my son’s doctor about mthfr and type 1 diabetes. I need more reference material. The doctor has reported me to child protection because I fired her. I go to court on march 10. My wonderful chiropractor is helping us navigate vitamins and dietary changes. I need info in regards to insulin resistance when my son accidentally gets a wrong food.

  43. Kim B-G March 1, 2015 at 8:27 pm #

    Hi Dr.Ben,
    I just got 23andme results back, and I am heterozygous for MTHFR C677T and A1298C.

    My husband and I are looking to start trying to have a baby. Is your HomocysteX Plus that you mentioned much earlier in the thread, sufficient to hopefully prevent any of the potential issues (miscarriages, autism, Down syndrome, etc) that come with these genetic mutations?

    Kim

    • Dr Lynch March 2, 2015 at 6:42 am #

      Hi Kim –

      Please read this article – and listen to the podcast:
      http://mthfr.net/prenatal-supplementation-optimizing-your-future-child/2012/01/20/

      While we cannot guarantee prevention by any means, we can certainly do our best to reduce risk.

      Just because you have MTHFR, the same one I have actually, does not mean you have an issue. It all depends on your lifestyle, diet and environment – and vitamins/supplements/meds you take.

      Working with a great OB or midwife along with a knowledgeable physician is recommended.

      You may find one a doc here possibly close to you – http://www.seekinghealth.org/physician-directory/

      • Kim March 2, 2015 at 8:33 pm #

        Just listened to the podcast, it’s tremendous!!

        But I do have a question about the Optimal Prenatal. It contains Milk Thistle, which is known to chelate iron. Given the importance of iron for pregnant women, should this be of any concern?

        I ask, because I’ve been having a heck of a time raising my ferritin levels despite strong supplementation of the right kinds if iron… and it turns out a supplement I take with Milk Thistle in it has been the reason why! So I’m quite wary of Milk Thistle now… but maybe this isn’t a concern at this amount?

        • Dr Lynch March 4, 2015 at 5:49 am #

          Hi Kim –

          Not familiar with that interaction.

          There is no iron in the prenatal – it’s taken out as women need to have their own amounts of iron.

          Hard time raising iron can be for many reasons.

          I’d try Optimal Iron Plus Cofactors as it has cofactors to assist with iron absorption.

          • Chris October 26, 2016 at 4:08 pm #

            Dr lynch. Do you ever have any one test for hemochromatosis?

          • Dr Lynch October 26, 2016 at 4:56 pm #

            yes – definitely needed. Quite common. Use Genos Research or your doc has a test you can use.

  44. Becky jesse March 6, 2015 at 2:10 am #

    Hi, 2/3 of my children have lip/tongue ties (now revised) and both have sacral dimples and youngest one also has a ridge down her forehead. When we recently saw a Dr for a checkup I mentioned my suspicion of being tied to mthfr and the response I got back was that she could not find any evidence supporting a link between the ties, dimples and ridge to mthfr mutation. Any advice?

    • Dr Lynch March 7, 2015 at 12:35 am #

      Becky –

      Midline defects are associated with folate deficiency and on a bigger level – methylation dysfunction.

      One may be prone to having kids with midline defects with or without a MTHFR defect – it all depends on how your methylation was working during pregnancy.

      There is a lot of science in this conference recording that I highly recommend you and your physician watch:
      http://seekinghealth.org/product/prenatal-conference-course/

    • Anastasia March 18, 2017 at 8:48 am #

      Hi Becky, mo son has the same, sacral dimple, a lip tie and the rest, I am thinking right now if I should test him on MTHFR gene mutation. But there is very little information available what treatment is possible for babies with MTHFR, so I was wondering what did you do with your children, did you get tested, or whatever?

  45. Stephanie March 6, 2015 at 6:59 pm #

    I am shocked at this list as well. I suffered from migraines with aura as an adolescent. I was diagnosed with Crohn’s disease at 15. I had Pulmonary Emboli with an infarction at 24. It wasn’t until after my 3rd miscarriage at 27 that they found that I am Heterozygous for MTHFR, and they seemed unconcerned. I have only recently learned that all of my health issues, as well as the 5 miscarriages I had before having my daughter in 2013, can be traced back to this gene. My husband’s sister was just diagnosed as well. So, I am insisting that my husband and my daughter be tested so we can hopefully do what we can to prevent a life of ‘illness’ like the one that I have had!

  46. Sandra March 8, 2015 at 12:45 am #

    Hi Dr Ben, I have a quite a few of the conditions on the list all of which I have not listed inc inflammation,arthritis, bladder problems, poss IBS, and stomach issues, I also suffer with bouts of tiredness during the daytime, I did see a Natural Medicines Doctor who did tests and revealed that I had hormone imbalance, thyroid problems [although GP tests were always considered normal], and did start taking thyroid supplement which didn’t agree with me so had to stop taking it, also a test for homocysteine which the doc considered marginally high [again on mainstream results would have appeared normal], Iron levels were normal although Ferritin was high. Things for inflammation like C-reactive protein all seemed to read normal which I was most suprised about.
    I also found out recently that I am HLAB27 positive as is my daughter so I am wondering now if this could also be part of the problem…and possibly auto immune condition which I feel was initially triggered by Ross River Virus back in 1990 or could the HLAB27 just be another Gene abnormality.
    I would appreciate your feedback and I think I will order the test when I see my GP shortly.

    Thank you
    Sandra

  47. Cara March 16, 2015 at 10:55 pm #

    I was told today I tested positive for MTHFR And prothrombin. I am 20 weeks pregnant with my second child. My first pregnancy had no complications and my daughter is healthy. At 10 weeks I had a subchorionic hemorrhage and they have been monitoring it ever Since. At 18 weeks I went to a high-risk specialist Because my placenta was butted up next to this hemorrhage And they discovered the baby has a choroid plexus cyst. We were told that it’s fairly common And not to worry, but can be a marker for chromosome disorders- in particular trisomy 18. Today after reading facts about MTHFR I am concerned that the cyst combined with the diagnosis means that there may be a chromosome disorder. Based on this information does it sound likely? Thank you for any help! I go back to the doctor on Friday but that’s a long time to wait when your mind is wondering.

  48. Angela March 17, 2015 at 4:19 pm #

    I am very new to all of this. I have 2 sons, both with Ehlers Danlos. Added to the EDS,my oldest has CRPS, Fibro and my yougest has Diabetes (just dx’d and they are still fighting over the type, no labs to confirm Type 1, but all indicators point to it), speech/hearing/vision issues, struggles with learning, Polycystic Kidney, and eczema issues. I have Intracranial Hypertension (Pseudotumor Cerebri Disease), was told by a researcher that I also have insulin resistance, depression, PCOS, migraines, constantly tired, GERD, and nauseated almost all the time. He put me on Metanx and glucophage, and it seemed to help. I was feeling much better, headaches were better, lost weight, and just felt much better overall. Unfortunately, the researcher was older and a very far drive. With my IH, I could not drive there every few weeks. I can not get any doctors near me to give me the Metanx.

    Is there any evidence of MTHFR causing IH? Are there OCT meds that I could take that would help? I have many friends with IH and we are all kind of looking for anything that would help. Shunts and spinal taps just don’t seem to have any long-term relief. The researcher I saw seemed to think that IH, PCOS, and EDS were all related.

    Thanks for any help you can provide!

  49. Stacee Akins NC March 17, 2015 at 9:28 pm #

    Hi,
    I was recently diagnosed with MTHFR, is there a link between MTHFR and thyroid disorders? hypo/hyper?
    Thanks

  50. Madeleine March 23, 2015 at 4:21 pm #

    Good morning Dr. Lynch,

    In late December, i was diagnosed with MTHFR homozygous C677T. the diagnosing doctor suggested the Seeking Health protocol of HomocysteX Plus, Active B12 Lozenge and Optimal Multivitamin, which i have been on since early January.
    Since this diagnosis, i have done extensive research on the mutation, regarding my role in improving my environment (household and personal care chemical) and dietary changes which include removing as much synthetic folic acid as possible by scrutinizing product labels, and increasing folate rich foods into my diet. With all this said, i do not see a significant improvement, except for the decrease in my neuropathy. which is an incredible relief. Most days i feel unable to to much of anything…generalized feeling of malaise and sleep of and on much of the day in my recliner, throwing a blanket off and on with my body being unable to regulate temperature. Wondering if there is additional testing that should be done, or other suggestions for treatment protocol.

    i also have many other physical issues, including ADHD, (of which i am uncertain, as i have not have favorable results with 3 medications over 4years…they seem to exacerbate the ADHD symptoms. Also have asthma, mild emphysema, numerous chemical sensitivities. and extreme difficulty dealing with vision issues. In the last 5 years i have had 9 prescription changes, each of which lasted only a few months. i have seen many eye specialists who can not ‘label’ any particular problem other than that which i had as a child…myopia and astigmatism, and recently age-related presbyopia. i am long overdue for my annual eye exam as i do not have faith that i will be given a prescription that would be longer lasting. as it stands at this point, my visual acuity (double vision, blurriness), changes frequently throughout each day, and i feel there is no point in another eye exam. I struggle with hyper light sensitivity, where at times i need to where sunglasses indoors with blinds closed, driving with rear view mirror always dimmed, yes even cloudy days, and cannot drive at night.
    Other issues include the premature birth of my only pregnancy, and subsequent loss of my daughter the following day, and future inability to conceive. i have also had severe difficulties at times with proprioception, fell 14 times from Spring to Fall in 2011, leading to the use of a cane, and nearly a year of physical therapy. That has currently subsided, though feel unbalanced, frequently misjudging walls, doorways and other objects, leading to frequent severe bruising and sore muscles. Currently, and for the last eight months, i have struggled with undiagnosed speech difficulties. switching the fist letter of consecutive words and/or switching entire words within a sentence, both speaking and writing. Thank God for spell-check. i have made at least 25-30 corrections thus far.

    In years past, i have had to fire many doctors who would not listen, believe me, or perceived me as a psychosomatic head case. After firing the last one in 2011, i have since found my current OD, MD who has listened intently and guided me to the specialists who were then able to diagnose many of the symptoms plaguing for so many years. Some of these diagnoses include obstructive sleep apnea…leading to chronic, widespread pain syndrome, small fiber neuropathy (which i diagnosed after months of research three years of no one being able to diagnose an increasingly severe, body-wide nerve pain…went to patient focused neurologist with this info, and after numerous tests, and finally, a skin biopsy confirmed what i had discovered. I initially had great success with the apnea treatment, though over the last month or so, i am awakening several times throughout the night due mostly to pain. the idiopathic small fiber neuropathy, in which my neurologist told me i would have no relief until the cause was found, had all but subsided with the MTHFR protocol i am on…thank you!
    My primary (OD, MD) diagnosed pulmonary hypertension, with which i have had moderate treatment success. More recently, i have had dangerous fluctuations in BP readings, along with severe headaches lasting days at a time
    I am post-menopausal, which i understand,can further complicate MTHFR. I had a total hysterectomy in 2008, and i believe this is when i began to notice in increase in the intensity of previously undiagnosed symptoms.

    i am very frustrated, overwhelmed, depressed and distraught that the medical community has so little knowledge of MTHFR or seem to want nothing to do with it. The doctor (not my primary) who diagnosed me, has no further suggestions or guidance at this point. He feels that i do not need to be so concerned about altering my physical, chemical environment, or change my diet to any significant degree. And he has MTHFR himself??? Oftentimes, i feel as though i am getting nowhere, and feel like giving up this pursuit towards improved health.
    Dr. Lynch, do you recommend any further testing and/or changes to what i have already initiated? I saw somewhere, you mentioning a comprehensive MTHFR panel? Do you feel this would be appropriate given all this information? Please recommend.

    • christine March 24, 2015 at 1:58 pm #

      Madeleine, it’s me again…i just replied to your last comment but then i saw this as well. You are describing what many of us with DD go through. What i want to communicate to you right now is this….with Dercum’s Disease (DD) any layer of fat in your body can swell, so….you have a layer of fat around your optic nerve and it too can swell. If you do go to the eye dr again….ask them if they happen to notice if the optic nerve looks fuzzy….that is what they told me and said that it shouldn’t look like that but they could not find out why i have blurry vision etc….I am sorry you are going through this…i am unable to get on the computer often b/c of various issues but…find me on FB….last name is McGrath -Eagleville PA.

      • Madeleine March 26, 2015 at 12:37 am #

        Christine…unable to locate you on FB. Email me direct -mdionnesvitak313@comcast.net, so I can give you my FB name and hopefully connect that way.
        I saw your latest reply and will check Or the two websites you suggested. Me I’ll also check Dr. Karen Herbst page…location may determine ability to see her.

  51. Madeleine March 30, 2015 at 5:35 pm #

    Dr. Ben, are you aware of any connection between MTHFR C677T +/+ and Dercum’s Disease (Adipose Delorosa)

  52. Jean April 10, 2015 at 12:53 pm #

    Hi Dr. Ben!
    I am almost 52 and am homogenous A1298C and COMT. I don’t think they really started expressing themselves until about a year ago. I started running (after never running in my life) and developed Raynaud’s. It has progressively gotten worse. I did great running for a while. Then I felt like my lung capacity started dropping. It was kind of bizarre. In the beginning I could run a 5K without stopping (slowly, but could do it 🙂 then, probably 9 months into running, I would have to walk some. And I still do have to walk some. I was wondering if these mutations could contribute to that?? I haven’t been able to find any info on this. Thanks for all your hard work!!

    • Aron Choi April 13, 2015 at 4:43 pm #

      Jean, an A1298C SNP could definitely be associated with Raynaud’s. see:

  53. Kristen April 28, 2015 at 11:39 pm #

    Hello,

    Is panic disorder or major depressive disorder associated with MTHFR defects?

  54. Joann1 May 9, 2015 at 9:25 pm #

    Hi Dr. Ben,

    Would it be possible that there is a connection between dioxine poisening in men (e.g. Agent Orange during the Vietnam war) and MTHFR mutation in those males?

    And would it be possible that those males have gotten children with MTHFR mutations (paternal hereditary)?

    I do know that Spina Bifida in veteran’s children is considered a consequence of the exposure of their dad’s (and mom’s ) to Agent Orange. But I cannot find any clear data about MTHFR being the cause of that…

    Thank you!

    I do appreciate all the work you do for us!

  55. Denise Whistler June 1, 2015 at 7:47 pm #

    Hello Dr. Ben, you list MS as a MTHFR caused condition. Are other Auto-immune illnesses also connected? I was just found positive for Sjogren’s Syndrom and wondering if it was connected to my MTFHR C677T (one copy).

    Also, you list miscarriages, but are other female issues like PPMD and PCOS related to MTFHR? My daughter is also MTFHR C677T (one copy). She also has been diagnosed with hypothyroidism and adrenal fatigue. She was already concerned about infertility issues when that time comes and was wondering if there was a higher risk with the MTHFR.

    Thank you.

  56. Debbie June 5, 2015 at 3:35 pm #

    I was diagnosed with homozygous MTHFR and my son was recently diagnosed with heterozygous MTHFR. My son has been referred to Cooks in Ft. Worth. I spoke with someone there and they mentioned that there was a “MTHFR bandwagon” and they were not on it. My son and I know this is a real condition as we are living with the effects of it, and I hesitate to bring him there when they are so dismissive of the topic. We would have to travel 12 hours to find a doctor trained and listed on you me website. Would you suggest us heading to Cooks anyway which is six hours away?

    • Dr. Aron June 9, 2015 at 9:39 pm #

      Hi Debbie – I hear you that it can be difficult to find someone who understands methylation and MTHFR. Dr. Lynch’s goal is to get more doctors trained and aware that MTHFR is important to consider. I would continue to call different doctors in your area to find someone who isn’t dismissive of the topic. How fruitful would it be to try to have a discussion if this particular doctor isn’t willing to have a thoughtful discussion with you? Probably not very…

      All the best,
      Dr. Aron

  57. Nobuzwe June 9, 2015 at 8:17 am #

    Hi Doctor

    I know this is quite an old article, but upon finding out that my daughter MTHFR was heterozygous, I started Googling.

    She is 3 and was diagnosed with autism in March. Her doctor recommended we do the gene test, and she just told me the results. I am not quite sure what this means actually, and she is recommending we give her a methylating agent and B12 injections? And all she said was that she has one normal and one abnormal gene, and noting about the “numbering” you mention in the possible results.

    I see a lot of your posts refer to homozygous results and recommendations on how to alter diet and what supplements to take. Can you please point me in the right direction.

    And also, what does her result mean for us, as her parents?

  58. Claudine Mcleavey-king July 6, 2015 at 10:01 am #

    Hi there, im in the UK and hoped it may be ok to ask for some advice with regards to MTHFR, my 21 month old has lots of health issues and we can’t get to the bottom of them, on finding this condition i am alarmed that i display so many of its listed health conditions and he is following suit, our Doctors here are dismal with MTHFR and havent heard of it i desperately want myself, husband and 2 sons tested for it, can you tell me if the results would be accurate in such a young child, im currently waiting for a return phonecall from a Genetic testing lab for advice but they dont offer private testing so i cant pay for it, it has tocbe through a doctors refferal via our NHS and i can’t get any of the babies doctors or 4 consultants (General pead, Gastro Pead, Tounge and lip tie Consultant, Child Development and behavioural) to take me seriously, i would be so helpful for any advice my baby has not grow for 6 months now im very distressed with it all, many thanks

    • Dr. Aron July 20, 2015 at 8:39 pm #

      Hi Claudine – Sorry to hear that you’ve had trouble finding someone to take you seriously. I found one doctor in London from our Physician Directory. I recommend reaching out to see if he can help or at least point you in the right direction. https://seekinghealth.org/physician-directory/anastasis-tzanis/. Please keep us updated on your progress. Wishing you the best.

    • Lauren e January 10, 2016 at 2:48 am #

      23andme does the genetic testing and has the mthfr results as well as many other things (some that are medical and some that are just interesting facts about you). I believe the testing kit is $99, if your insurance won’t cover the gentic testing (my daughters insurance covered it but her pediatrician mentioned 23andme after we started seeing her (our second pediatrician and we saw her after we received the results).

  59. Carol July 8, 2015 at 3:40 am #

    When my youngest daughter was born the pediatrician said that there was something different about her appearance and that she could have a syndrome. Her ears are lower and tilted back, her eyes are wide-set, and when she was first born she had a strange pink line down her face like it had just come together. She was also tongue-tied. She had some medical issues after she was born also and did not progress developmentally like she should. Because of all of this, I took her to a geneticist at 5/6 months old to have tests run. The results came back that she has a rare duplication called 1Q21.1 Microduplication. The geneticist had never heard of this and neither had we. Since that day, I have been on my own to try and figure everything out that I can to help her as much as possible. It has been a long 5 years and quite an uphill fight. As I read the list of symptoms, I saw quite a few things that she had/has that have been a mystery to doctors. Any help/info I can get is a God-send for sure! Do you think that she could possibly have the MTHFR mutation and how can I help her? How can I get her tested?

    • Dr. Aron July 20, 2015 at 10:46 pm #

      Hi Carol – I haven’t heard of microduplication either. The tongue tie could indicate a potential MTHFR polymorphism or methylation issue. Your doctor could order the test for you through lab like Spectracell or LabCorp. Check to see which one is covered by your insurance or cheaper if you have to pay out of pocket. I believe this test out of pocket runs for $100-200. Once you know her MTHFR status, you’ll have more information to work with. There is a lot of information on this site and there are doctors who have completed training with Dr. Ben you can reach out to (https://seekinghealth.org/physician-directory/). Wishing you and your family all the best.

    • Mary July 21, 2015 at 4:21 am #

      Carol,
      I’m replying as a mom with a scientific background here. I have a son who has a chromosomal condition, plus the MTHFR compound heterozygous mutation, and then he was also exposed to a toxin which caused more health problems. It was an ordeal finding out what he was exposed to and getting him treated. But ironically you know the best thing that worked? After umpteen physician visits and going in circles getting evaluation after evaluation and few results? Laying on hands and Prayer in the name of Jesus Christ! God answers prayer! If you’re interested, I could point you in the direction of some good healing ministries. In fact, as a result of all our illnesses, I’ve learned to pray for people in faith and am seeing more people healed. So there you have it — a faith-filled response from someone with a scientific background.

    • christine July 23, 2015 at 12:06 pm #

      Hi Carol, i am so sorry to feel your pain and desolation and i really do understand! I would like to know if you would feel comfortable in emailing me privately about some of your daughters symptoms and manifestations, etc? My email is cmm1413@gmail.com ar you can find me on FB. My last name is McGrath and i am holding a stuffed animal and sitting on a couch. I just want to see if i can can help and if our children share any of the same traits.

  60. April Z July 12, 2015 at 10:31 pm #

    Would you update the list to include lip-tie, please? Thanks for all you do Dr. Ben!!

  61. Kim B. July 13, 2015 at 8:25 pm #

    Hi Dr. Ben,
    I have a 15 year old son who began to regress at 16 months after his MMR and Pneumococcal vaccine. My son was a typically developing little boy before 16 months. A few months ago we discovered my son has (1) 1298c mutation. My son at 15 years old has numerous health conditions including bone cysts, asthma, allergies, autism, sensory processing disorder, steatohepititis, calcium deposits in his kidneys, IBS and a gluten sensitivity. My 3 1/2 year old little girl has (2) 1298c gene mutations and is absolutely healthy and NOT vaccinated. I truly believe that because of his gene mutation, toxins in the vaccines triggered my son’s health issues and my daughter would also have these conditions if she had been vaccinated. I can not find any research to substantiate this and wanted to know if you could refer me to studies about this.

    Thank you in advance,
    Kim B.

    • Lauren e January 10, 2016 at 2:43 am #

      I agree with you kim. I am refusing to give k her vaccines on a normal schedule and have opted to take all aluminum containing vaccines out of her vaccine list. After her brain swelling at 2mo after her shots, this is what makes sense for our family.

  62. Daniela July 31, 2015 at 12:58 pm #

    Hello
    10 years ago I discovered to have hashimoto thyroiditis; my MTHFR is T677 heterozygous.
    What I have to do? Thanks for your time.
    Regards
    Daniela

    • Dr. Aron August 6, 2015 at 7:36 pm #

      Hi Daniela – Please start by finding a doctor who can guide you in the physician directory. You can also read more about Dr. Ben’s Basic Protocol here and discuss this with your doctor.

  63. Lisa August 9, 2015 at 2:19 am #

    My daughter is 15 and has had severe eczema and asthma since 2. When she was 8 she had a peanut reaction and since then has been diagnosed w
    With being intolerant to a lot of foods and proteins. Do you recommend this test for her?

    • Dr. Aron August 11, 2015 at 7:05 pm #

      Hi Lisa – eczema, asthma, and food intolerance are very often related to gut health/gut flora imbalances/inflammation. I recommend working with a doctor trained in naturopathic and/or functional medicine who understands how to treat the gut. Some things to consider are to do an elimination diet to remove common food allergens for a few weeks to see if symptoms improve–dairy, eggs, wheat, corn, and night shades (tomatoes, eggplants, peppers) to name a few. In addition, look to limit environmental triggers–dust/mold/animal dander. Also consider a good probiotic (like VSL 3 available at many pharmacies like Costco), completely avoiding refined sugar, avoiding processed foods, and a whole foods diet with lots of fresh vegetables and anti-inflammatory omega 3 fats. With that said, testing for MTHFR would provide another piece of the puzzle. It’s a good screening test and not very expensive if you can do it. Even if your daughter has a MTHFR polymorphism, the above recommendations likely still apply. Hope this helps!

  64. Banana October 11, 2015 at 3:06 am #

    It is absolutely appalling that this twaddle is being foisted on a gullible and uneducated American public. MFTHR mutations affect the majority of the population as do non-specific symptoms such as fibromyalgia, chronic fatigue etc. While it is true that folate deficiency mediated by MTFHR mutations is important in pregnancy, there is very poor evidence that ANY of the above mentioned diseases are solely caused by prevalent MFTHR mutations. It is cruel, misleading and non-scientific to hoodwink people into believing that their physical complaints can be pinned on one genetic mutation. Worse, you can bet that alternative medicine providers will sell their own concocted supplements at high cost to “treat” all these chronic diseases and potentially discourage sufferers from seeking appropriate medical care. Let’s hope this non-disease MFTHR mutation goes the same way as systemic candida, chemical sensitivity syndrome, epidemic myalgia, chronic Lyme disease, Laetrile for cancer treatment and other bogus conditions,

    • Dr. Aron October 21, 2015 at 11:30 pm #

      Banana – Thanks for sharing your thoughts. We totally agree that these conditions cannot be pinned on one genetic mutation. Conditions are complex and multifactorial. However, methylation is important for MANY biochemical processes and cannot be ignored. The goal of MTHFR.net is NOT to push supplements at high cost, but to educate the public and health professionals about its significance. We do not condone one-sized fits all supplement protocols based on genetic mutations because that is unethical. We recommend everyone works with their doctor to receive individualized diagnosis and treatment.

    • Dr. Aron October 21, 2015 at 11:30 pm #

      Banana – Thanks for sharing your thoughts. We totally agree that these conditions cannot be pinned on one genetic mutation. Conditions are complex and multifactorial. However, methylation is important for MANY biochemical processes and cannot be ignored. The goal of MTHFR.net is NOT to push supplements at high cost, but to educate the public and health professionals about its significance. We do not promote one-sized fits all supplement protocols based on genetic mutations because that is unethical. We recommend everyone works with their doctor to receive individualized diagnosis and treatment.

    • Lauren e January 10, 2016 at 2:40 am #

      I think you are the UNEDUCATED one. Have you read any scientific research? You know, with actual data that’s been analyzed? Mthfr had been linked to MANY syndromes, diseases, and illnesses.

  65. Lori October 17, 2015 at 8:06 pm #

    Dr. Ben,

    My daughter was diagnosed with Cerebral Folate Deficiency through a lumbar puncture. This was totally found unexpectedly through a lumbar puncture. She is also hetero for the MTHFR C667t. She has tons of medical issues. She has been diagnosed with mast cell activation, gastroparesis, Ehlers Danlos, etc. Mitochondrial disorders were negative through muscle biopsy and LP. They now have her on Leucovorin for treatment. I am just wondering if this should be the case. I figured that because of the MTHFR she should have been put on L-5-MTHF. What is your opinion?

    Thank you for your time .

  66. Christie M October 31, 2015 at 6:05 pm #

    I am just hearing about this and it’s overwhelming! I have chronic health issues from A to Z. From a Neuroblastoma at age 2 to chronic pain issures, to bowel issues that ended up in a total colectomy. (and many more!) How would I know if I have this? Even if I did know, is there a treatment? I’m on a waiting list to see a Naturopathic Doc…is this something common for them to know about? I’ve already started a lot of holistic changes in my life, hoping to get healthier, but I’m wondering if this is possibly playing a part? Every day, I am more outraged and leery of the mainstream health care system.

  67. Amy doescher November 3, 2015 at 3:46 am #

    Have you seen anything to suggest possible relationship to osteogenesis imperfecta?

  68. Miriam November 18, 2015 at 10:44 pm #

    Hi,
    I’ve seen many posts mentioning depression but depression is not on the list of “MTHFR Mutations and the Conditions They Cause”, above . Why is that? Is depression not actually related?
    Thanks!.
    Miriam

  69. ginny December 1, 2015 at 3:43 pm #

    I wondering if I have this. I have an autistic son and i couldn’t conceive but two kids in 17 years of marriage. My son was born when I was 40 and that might be a factor (actually we were surprised I was pregnant–we hadn’t used contraception leading up to that point and there is an almost 10 year gap between our kids). I was also said to be “borderline autistic” as a small kid, though now it’s thought I am ADD, given my behaviors when I was little (shy, quiet, withdrawn, hard to get my attention, hyperattention to certain things, instant memorization, hyperlexia). My son isn’t what I was though. I read at age 4, could do computations, had early language and writing abilities (wrote my first two page book report at age 7 and was the top speller in 2nd grade). I was physically awkward, but not too much socially–I was a chatty kid and conversed equally well with babies and adults, but was pretty shy and introverted otherwise. I loved animals and bonded well with most of them. I was able to go under a fence at an indian reservation and bonded with this one rancher’s horses and he freaked out because he told the camp trip leader most of them were half wild and one mare and stallion let me see their colt. My son is the polar opposite–his gross motor skills are perfect, he’s very social but does not converse: he does echolalia and talks only in short phrases directly to people–which I DIDN’T do–I was wordy and LOVED to talk to people when people didn’t mind long conversations back and forth. People though I was overly mature and “precocious”. My son is behind his peers by three years , i was ahead by 2-3 and I scared my mom, she said, because I was like “a little adult”. I couldn’t really help that. My son acts like he’s 3 at age 7.

    • Lauren e January 10, 2016 at 2:34 am #

      Autism is a spectrum disorder meaning it comes in many shades. You were very high functioning and super intelligent which sounds like aspbergers where he was on the other end of the spectrum with many of his skills.

  70. Amy Findore December 8, 2015 at 1:49 am #

    I sure hope this site is still active. I found out about 6 months ago that I have the MTHFR gene mutation. Just reading this list makes me want to cry. Premature death…..oh my. I have a few of this disorders listed already, and two beautiful young sons and a loving husband who I want to live a long life with. This is all so new and I am terribly scared by it all. I would love advice. I am going to see a genetic counselor very soon.
    Thanks! God Bless!

  71. Dr. Mary Ann Block December 26, 2015 at 6:31 pm #

    Is there an association with MTHFR and Gastroparesis, especially C677T?

    Thank you.

  72. amanda January 2, 2016 at 10:42 pm #

    Hi,

    Ive been very ill for ten years but recognise what I know now are symptoms. Ive found specialist who had said to tryst this I’ve just sent off my sample. I had operation antibiotics and stress and all kicked of. The room spinning, massive distended belly, anxious bad temper, in pain exhausted and very depressed excema , constipation cold , intolerant to stimulants, can’t rat gluten or sugar as bad hypoglycaemia. Been told U have and tested see saw cortisol saliva. Best on no carbohydrate seizure, Sabo, yeast infections after eat sugar. 6 years back had a binge as depressed hard to live normal life, had bug argument went to sleep woke up quick pounding hart and upset belly and my tight side of body felt and looked different my face smiles wonk and puffy cheek, was delusional, shaking lost weight sudden.Ly…I think.I Had adrenal crisis or some thing. Now all day have degrees of wonky face, not as wonk if feeling not to bad can’t see it much .every time I pee it gets worse… and I’m thin lost muscle sore mouth, hair loss, low Bp just a nightmare I was told I had low t4 just under and borderline t3 by private doctor, this new NHS doc is great he thinks its low because of the illness making it lower,..

    So hopefully this will help as I just can’t live normally
    Thankyou

  73. Teresa January 3, 2016 at 9:59 pm #

    I have the MTHFR mutation and ALS Amyotrophic Lateral Sclerosis

  74. Lauren e January 10, 2016 at 2:31 am #

    My daughter and I both tested positive for having a heterozygous mutation of the a1298c gene.

    Doctors say it’s nothing, but the reason I had her tested was due to brain swelling after her 2monvaccines. She is now 6mo and a super happy and sweet baby. She is currently having many tests done because she has been very ill. She had a uti when she was 3.5mo and then again right as she turned 6mo they diagnosed her again. Both times I told her pediatricians office something was wrong, she was warm temped, but not really feverish for 1-3 weeks prior to the diagnosis of the uti. This time, she had a multi-drug resistant strain of e. Coli so she ended up admitted to the hospital and discharged December 23rd with a picc line and I had to administer antibiotics twice a day through a type of iv.

    Now she is having my blood tests done including weekly CBCs to ensure her neutrophils are in check. They believe she has a gentic condition causing her neutrophils to be low. They are talking about doing a bone marrow biopsy on my INFANT. I’m terrified of the test results, but we need answers to treat her.

    Please, if you have any info that could help, please reach out.

    ~Lauren
    (Subject line MTHFR)

  75. Shelley Lopresti January 12, 2016 at 1:22 am #

    We just had our kids tested and both came back with T/T and A/A. I am pretty much crushed at this point. They are now 14 and 22. Please give me a pep talk and what to do now. I know that I am T/T.

  76. Steph January 25, 2016 at 12:41 pm #

    Interested to hear about the link between low breastmilk supply & mthfr, if you have any information?

  77. Shelly January 26, 2016 at 6:26 am #

    HI,
    I was diagnosed with an aggressive form of Primary Progressive MS thirteen years ago and was told that it was the result of having Glandular Fever during my teen years as there is no family history of the disease. I also had a lot of fertility issues with 14 miscarriages before I got my son. My son was diagnosed with ASD, ODD, ADHD, SPD and anxiety at the age of 3. Could all this be a result of MTHFR. I am in Australia and my Nuerologist is not keen on looking at alternative medicines, how would I organise to have the testing done?
    Thanks

  78. Angelia January 30, 2016 at 10:01 am #

    I was diagnosed with mthfr 2years ago and my drs know very little about it. I have constipation problems all my life . I was recently in the hospital for shortness of breath, low oxygen level and high homocysteine level. I stayed there for a week and no diagnosis were ever given.

  79. Tracy February 9, 2016 at 1:50 pm #

    I have been diagnosed with MTHFR C677T HOMOZYGOUS. I was wondering if it can be linked to Cystic Fibrosis?

    • Joy S. October 5, 2016 at 8:29 pm #

      No, MTHFR and cystic fibrosis are two separate conditions caused by two different genes.

  80. Heather February 18, 2016 at 7:23 pm #

    I am having hard time finding info on what it means to have both the MTHFR C677T and MTHFR A1298C. I have them both on two different genes. It is very frustrating because there is limited info out there. I take the broken down form of folic acid. but honestly I know there is more too it and simply want to understand if it is different from just having one.
    Heather

  81. Shellie February 23, 2016 at 4:10 pm #

    Thanks for the information. My 16 year old autistic daughter was recently diagnosed with both variant mutations of MTHFR also a severe vitamin D deficiency. The only reason she was tested was the optometrist she saw knew about this condition. Since then i got tested and found out that I as well have the double mutation as my daughter. I have bipolar and high cholesterol. I am going to have my oldest daughter who is bipolar and my son who is adhd and a failure to grow like a normal 12 year old (still the size of an eight year old) tested. My husband is going to ne tested as well. The condition confuses me profoundly.

  82. Laurie Kowalski March 9, 2016 at 9:37 pm #

    I just found out that I have both of the mutations. I have a child with Down syndrome and one with Autism. Could these all be related?

  83. Tandoolie March 15, 2016 at 11:01 am #

    Dr Ben i have 677 and 1298 heterozygous….and have pretty clear indications of having a mould toxicity – namely growing mould inside. My question is, why is it that I never see mycotoxins or lyme disease as being one of the possible conditions?

    • Dr Lynch March 15, 2016 at 4:23 pm #

      It should be – you’re right.

      The list is not complete by any means and has not been updated for some time.

      Basically any condition that is related to methylation deficiency – of which are MANY – are related to MTHFR issues.

      • Lindy March 16, 2016 at 1:59 am #

        Dr. Lynch
        You’ve mentioned Down Syndrome may be associated with MTHFR mutations, but what about the sex chromosome variations — XXY, XYY, XXX, Turner’s, etc.? (roughly 1 out of 500 individuals is affected by sex chromosome variations). Also, will an individual with with XYY and a compound heterozygous MTHFR mutation (677T/1298C) be impacted by the MTHFR mutation? Does the extra chromosome compromise the methylation process/pathway? Please explain. Thanks.

        • Carol March 21, 2016 at 5:29 pm #

          I would be interested in the answer to this question, Dr. Lynch, because my 5 yo daughter has just been (at 5 years old)diagnosed compound heterozygous 677/1298 and she has a chromosome duplication called 1q21.1 micro duplications (diagnosed at 6 months with this).

          I am very lost, and trying to figure out how to help her has been confusing. She is seeing a pediatrician who has her on a lot of supplements. Is there a way for her to eat a better diet and not have to take supplements? Thanks for sharing all of your knowledge on this subject!

          • Lindy March 22, 2016 at 3:51 am #

            Carol
            Were you given any guidance after your daughter was diagnosed with this chromosomal condition, or were you just left “hanging”? After our child was diagnosed, the neurologist gave me 2 pages copied out of a medical textbook. When I asked a relative who was a doctor, she kindly sent me the same 2 pages! Geneticists weren’t much more helpful — except for a particular doctor at Georgetown who was both a geneticist AND a developmental pediatrician. Basically I was on my own to figure out how to address the condition. Does your daughter see a developmental pediatrician? Just be sure to stay away from mold! That can really turn into a nightmare on top of everything else!

          • Lindy March 22, 2016 at 4:01 am #

            Carol
            Can I contact you by e-mail or phone? I have some other suggestions and tips. My son is grown now, but we had to deal with so many issues. Yep — been there done that.

          • Amanda March 22, 2016 at 11:59 pm #

            My 10 year old daughter and 12 year old son both have 22q11.2 micro duplication …. My daughter also has a heart murmur and rare blood disorder … My son also has autistic, adhd, ocd, severe anxiety, factorVII defiency , and dyslexia… They were diagnosed 2 years ago with the chromosome duplication and sent on our way with a pack of papers explaining what they had and that was it… Me and my husband were told to get tested but I figured what is the point in wasting my money and time if they won’t take the TIME to help us understand and help our children … So if like to know the answer to your question also since my son also the MTHFR mutation (have no idea if my daughter has it)

  84. Andrea March 22, 2016 at 5:50 am #

    If my identical twin sister has the homozygous C677T MTHFR gene mutation, does that mean I automatically have it- we were once one tiny egg that split. I’m assuming I should get tested but I wanted to know if that was automatic or if it is possible for one identical twin has this and the other doesn’t???

    • Dr. Aron March 28, 2016 at 9:59 pm #

      Andrea – theoretically you should have identical genetics, but there could also be epigenetic factors and unique experiences that could influence your genes. It’s an interesting question that I don’t know the answer to for certain. It is easy enough to test for MTHFR that it would be worth checking for, especially if you think it could be related to a health concern.

  85. Evelyn March 23, 2016 at 10:04 pm #

    I recently received results from 23 and Me and had the data interpreted by genetic genie. I have homozygous mutation MTHFR C677T and homozygous mutation VDR Taq. I had an appointment to see my Dr. because I’d been extremely tired. I took the results in and they did lab work. They were looking for Vitamin B and D deficiency due to what I had read. They were also checking for thyroid or anemia problems. Was there something specific I should have requested? I have had migraine’s with the aura since I was a teen ager and still get them occasionally. I have also had breast cancer. I do not have any of the other illnesses listed. Please let me know what questions to ask my Dr. Thank you.

  86. Krystal May 29, 2016 at 3:29 pm #

    I have been suffering from chronic gastritis for three years, it was brought on by a single cortisone shot. I was recently diagnosed with MTHFR C677t heterozygous, and I’m wondering if it’s possible it is the reason I can’t seem to heal from it? Could proper supplementation for the MTHFR help me heal from the gastritis? I can’t help but wonder if the two are connected.

  87. Caroline brenchley June 3, 2016 at 7:19 am #

    Hello doctor
    I live in England and have issues with tiredness and unexplained swelling to my arms mainly… I had blood tests which revealed folate missing but all other vitamins were fine. I had a bunch of other tests eg carpal tunnel for the swelling. The gastro Doctor didn’t know what was wrong and just prescribed folic acid this made me feel worse. Apparently that shouldn’t happen. No one here in England can help. Is it possible I have this MTHFR? And how do I go about approaching my GP about it as it doesn’t seem to be recognised by the NHS. My oldest child was born with disabilities (coffin-Siris syndrome) some parents from USA have mentioned MTHFR. I am fed up with feeling ill and often feel depressed can I get help here in England
    Thank you Caroline

  88. Rhonda Potts June 17, 2016 at 7:03 pm #

    I have MTHFR found by my getting ill they found blood clots in my spleen and in my kidney , which they said was weird because they usually go to your heart , lungs , or brain. Subsequently they found out I also have Hypogammaglobuliniema, or cvid . What do you think ? Is there a connection between these two blood disorders ? And if so what can I do about it ? I’m already on immunotherapy Hizentra 75 ml once a week , this started 6 years ago I’m 56 . What is going on? Please answer.

  89. John Minton July 13, 2016 at 12:38 am #

    My girlfriend has Lyme, and many of the symptoms are identical to what are on this list:

    Depression
    Schizophrenia
    Bipolar disorder
    Fibromyalgia
    Chronic Fatigue Syndrome
    Chemical Sensitivity
    Irritable Bowel Syndrome
    (Family history of Blood clots, but she doesn’t seem to have this at this time)
    High homocysteine
    Epilepsy – It’s not epilepsy she has, but “seizurelike episodes”
    Alzheimer’s / memory loss
    Unexplained Neurologic Disease
    Asthma
    Shortness of Breath
    ….among other issues that are just too numerous to list here at this time.

    We did 23andme and sent the results through genetic genie. Her report came back with a number of mutations.

    Question 1: Does lyme affect the epigenome? I mean, do all / significant % of Lymies suffer from the same gene mutations? Is there any correlation there?

    Question 2: Where can we go to get detailed information on how to treat these various mutations at home?

    Question 3: With so many mutations, if you treat one mutation can it cause other mutations to produce a worse problem? ie Methyl B12 may fix one mutation but might cause trouble with another?

    Question 4: How does one go about treating MTHFR issues with Lyme disease (or other chronic illness / co-infections)?

    Question 5: This may be a little out of bounds here, but: Lyme, as with many other chronic illnesses, produce inflammatory cytokines via NF-κB. Are the specific supplementation that can encourage the body to turn the gene off? Can NF-κB be turned off by addressing other MTHFR and related mutations?

    Question 6: Where can I read about how to treat each mutation individually? There is so much information out there that after reading numerous articles, blogs and doctors notes I am more confused than when I started. For example, I would like to know how to treat CBS A360A.

    I have more questions but I’ll wait for another time.

    Thank you!

  90. Alex July 15, 2016 at 5:00 am #

    Dr Ben! I’ve just been tested for the MTHRF mutation which i had to see a naturepath for. We are having genetic testing done, yet the geneticist was not interested in testing for it ?. I have 2 kids and both were born with a single kidney. My 2nd has been diagnosed with VACTERL association, including a VSD, sacral agenesis and possible a single ovary and a misshapen uterus. My question is, is there any evidence of a link between MTHFR mutation and kidney problems and/or VACTERL association? Thank you

  91. Melissa August 17, 2016 at 2:53 pm #

    Is it safe to take a multivitamin that is safe for the MTHFR mutation if I have not been tested. I know I am low in B12 and I have had miscarriages and I am wondering if I should switch to a B12 from seeking health. Right now I am using one from Radiant life ( a great company) but I don’t know if it is ok if I possibly do have this mutation which I don’t know if I do since I have not been tested.

    • Dr Lynch August 26, 2016 at 12:10 am #

      Melissa –

      Taking a quality multivitamin with active B12 and active folates is a must for everyone – not just those with a MTHFR polymorphism.

      Best to you

  92. Penny Bevill August 20, 2016 at 9:54 pm #

    How does one get tested for this? I had a strange thing happen where my B12 numbers were sky high and uric acid levels low. I’d been taking folbic for a few years for low b12 levels. In conjunction to the high b12 levels from my bloodwork I was in extreme intestinal distress; like every organ in my body was aching. It was frightening. I quit taking all supplements and after a couple of weeks started feeling better. I wondered if there was any correlation to the bloodwork and how I was feeling.

  93. Joy S. August 29, 2016 at 11:02 pm #

    Dr. Ben,
    I would like to learn more about why you indicate Down syndrome is caused by or the result of MTHFR. I read the article you link, and the article is a case report of a mother who is homozygous for the C677T allele and happens to have a child with Down syndrome. The child has trisomy 21, which we all know is the sporadic result of miotic nondisjunction. Since the mother had no family history of Down syndrome and she was 17 years old tells us she had about a 1 in 1200 chance to have a child with Down syndrome, which is not a high risk but not unexpected.

    I look forward to your response as I am very curious about your association.
    Thank you.

  94. emily kischell September 23, 2016 at 9:16 pm #

    I can’t seem to find anything on people like me who have a homozygous defect on the C677T, AND a heterozygous defect on the A1298C. My doctor has never seen a case like mine and I get a feeling of foreboding about it when I search online, because I cannot find a single article or reference to others like me…. I’d like to know the risks and prognosis as well as how to approach this regarding my two daughters — it seems as though it is impossible for them to not at least inherit some of these mutations…

    Any leads are much appreciated! Thank you.

    -Emily

    • Dr Lynch September 24, 2016 at 6:04 am #

      Hi Emily –

      You are a pretty unique individual 😉 It is rare to have three SNPs as you do – but I have seen it a few times – and I’ve also seen double 1298 and double 677!

      This simply means that your MTHFR enzyme is further reduced in function so you need to support it even more – via lifestyle, diet, environment, mindset and nutritional support.

      Your daughters will receive some of your MTHFR snps – but that’s ok. You are knowing this information which makes you aware and empowers you to make sure they are also taking the needed precautions.

      Imagine not knowing and struggling through life.

      You also have daughters which is awesome. This means you are healthy enough to have children vs recurrent miscarriage – which is very common for those with the more reduced functioning MTHFR gene.

      This article will help –
      http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/

      as will http://mthfr.net/toxic/2014/12/09/

      • emily September 24, 2016 at 6:27 pm #

        Thank you so much for your reply Doctor. 🙂

        -Emily

  95. Jeri September 28, 2016 at 12:49 am #

    Any possibility that a gene mutation of this sort could cause muscular dystrophy like symptoms? My sister and I both have skeletal muscle weakness. I am in a wheelchair, she is not. Doctors have always assumed it is a form of muscular dystrophy but we still do not have an actual diagnosis, no family history, and symptoms that don’t quite fit any known MD’s.

  96. Nicole October 12, 2016 at 6:59 pm #

    I see hashimotos is not on your list but most people I know with hashis have a MTHFR mutation.

    • emily kischell December 14, 2016 at 11:12 pm #

      I can attest to this. I have a rare triple variant mutation of MTHFR and I have Hashi’s.

  97. Jennifer October 18, 2016 at 3:03 pm #

    I wonder if people with a growth hormone deficiency have A MTHFR mutation. I was born with a GHD, my younger brother as well. My two older brothers are normal height. I still have to be on medication for it and he does not need it at the moment.

  98. Keri Henson October 19, 2016 at 8:29 pm #

    Advice please:

    My son was dx with Neuroblastoma at age 9 months. He was stage 4, intermediate risk. He had several small surgeries, one 10 hour surgery to take out the “big” one on his kidney and 8 cycles of chemo. The chemo can cause ALL (30%) chance. He has tested positive for MTHFR. Should I be concerned about a link between the MTHFR and his increased chance of developing ALL due to his exposure to the chemo?

  99. Michelle Norris November 8, 2016 at 1:13 am #

    Have you updated this list recently? If so, can you provide me a link to it via email. CEO@paleofx.com It is so appreciated. We would like to use it as a resource and cite it in our book, if you’re okay with that.

    • Dr Lynch November 8, 2016 at 5:38 pm #

      Hi Michelle –

      MTHFR polymorphism demonstrates susceptibility to a vast number of medical conditions. It does not mean that one is destined for them. MTHFR’s job is to produce methylfolate. Methylfolate goes on to support methylation. Methylation supports over 200 critical reactions in the body in every cell. Each reaction has a few major roles. That said, MTHFR polymorphisms + the individual’s lifestyle, diet, mindset and environment may trigger a vast number of medical conditions.

      Think mechanisms vs condition. That’s the best way to understand how MTHFR may affect someone.

      Make sure one is supporting their methylation with leafy green vegetables, quality complete protein, great mindset and clean environment.

      Those are the keys.

  100. Marche Vorster November 13, 2016 at 8:03 pm #

    Dear Dr.

    My daughter (17) has been sick for more than a year. Extreme fatigue, flank pain, low blood pressure, low body temperature, insomnia, headaches, neck and shoulder pain, weight loss, no menstrual cycle, shin pain, reflex problems, dizziness, very low heart rate, high RT3 levels and she turned a weird yellow-orange color. We are with Dr. no. 10 and he diagnosed her with MTHR- Mutation. Her Homocysteine levels are 11, progesterone 0,6, estrogen 93. serotonin levels very, very low. Can you please give us advice?

  101. Lisa November 16, 2016 at 12:17 pm #

    I am curious if MTHFR gene could also be related to issues regarding Avascular necrosis? I hope to hear your opinion regarding this. Thank you!

  102. Heather Rozelle November 22, 2016 at 10:27 pm #

    The unexplained neurological disease – is that like having various forms of ataxia, but nothing shows up on imaging?

  103. F November 26, 2016 at 7:03 pm #

    Regarding “7. Schizophrenia”.

    I followed the link, and the abstract says:

    “In conclusion, neither winter birth nor MTHFR genotype were significantly associated with increased schizophrenia risk. There was no evidence for interaction between MTHFR 677TT genotype and winter birth in the development of schizophrenia.”

    http://www.europeanneuropsychopharmacology.com/article/S0924-977X(10)00216-6/abstract?cc=y=

  104. Diane D December 14, 2016 at 6:07 pm #

    A year ago my doctor tested me for MTHFR and I was positive for A1298C and C677. I was curious if you have seen a relationship with MTHFR defect and high oxalate and homocystine Levels? I am producing many calcium oxalate kidney stones. I have also been diagnosed with Primary Biliary Chirrhosis.
    An article ” Diseases associated with defects in Vitamin B6 Metabolism or Utilization” by Alfred Merrill and Michael Henderson had a section entitled Hepatic and Biliary diseases.
    Is it possible that all of these things are related?

  105. emily kischell December 14, 2016 at 11:07 pm #

    Hi Guys – here’s some promising news for you other mutants out there 🙂 —

    I have a rare triple variant mutation on MTHFR – so my doc started me on Deplin, and two months later many of my issues are resolved. MUCH better energy (I used to be so tired sometimes I couldn’t string words together properly), and remission of inflammatory/autoimmune symptoms that I used to associate with my Hashimoto’s disease (sore joints, rosacea, constant infections.)

    If you need Deplin and you start taking it, you will possibly feel MUCH MUCH better! I am so grateful I was tested for the MTHFR mutations.

    • Lisa March 14, 2017 at 3:42 pm #

      Hi Emily. Would you mind sharing if you are homozygous for 677 and hetero for 1298 or vice versa? My daughter is homozygous 677 (tested) and may be hetero 1298 (based on me and her father’s testing). We don’t see much about triple mutations.

      • emily kischell March 16, 2017 at 5:24 pm #

        Hi Lisa – There really is not much at all about triple mutations. I was shocked when I started researching and found so little. I think we are rare? I am homozygous on the C677T, and heterozygous on A1298C. Best of luck with your little girl. I have two little girls and will be getting them tested soon.

        -Emily

      • emily kischell March 16, 2017 at 5:25 pm #

        Hi Lisa – There really is not much at all about triple mutations. I was shocked when I started researching and found so little. I think we are rare? I am homozygous on the C677T and heterozygous on A1298C. Best of luck with your little girl. I have two little girls and will be getting them tested soon.

        -Emily

  106. Feisar December 24, 2016 at 9:05 pm #

    Is there any relation between high platelet count and mthfr?

  107. Diane D December 31, 2016 at 2:42 pm #

    I left a comment a couple weeks ago about Primary Biliary Ciirrhosis and MTHFR possible link. The more I read about the MTHFR and effect on the mitochondria, the more curious I become.
    The test for PBC is the AMA test- antI-mitochondrial antibody. I tested positive. The article I referred to in my Dec 14 post suggested a link between low B6 and Biliary diseases.
    I am slowly improving with the MTHFR but if there IS a link it would be helpful to many with this potentially fatal disease.
    Thank you so much for this site. It’s has been such a help in understanding my health problems!

  108. Elizabeth January 7, 2017 at 4:08 am #

    I have a +/+ mutation for this gene and don’t really suffer from any of these issues listed and quite honestly think I am completely the opposite from some of them. I think its great scientists are starting to learn about all of this and I am happy to help. I’m sure we will know more as time goes on. Too many comments on this page to read but I think its great so many people are interested and helping out and learning more.
    Best,
    Elizabeth

    • Dr Lynch January 28, 2017 at 5:57 am #

      Awesome. ++ doesnt mean you have a problem – it means you are susceptible to low amounts of methylfolate. If you are consuming leafy green vegetables, avoid folic acid, have a healthy thyroid and have adequate vitamin B2, your MTHFR gene won’t be much of an issue for you!

  109. JENNIFER January 20, 2017 at 7:25 pm #

    Oh wow! I just found out that I have this but my dr isn’t treating me for it…is that common? Is it ok to let that go? I am 46 year old female w/hashimoto’s and non classic CAH.
    Thank you.

  110. Lyn March 3, 2017 at 5:50 pm #

    As a researcher, your credibility would improve if your site was kept up to date. This page hasn’t been updated since 2012? We need people like you and depend on your information. Please update your site content to be consistent with available research within at least the past year. If you need help, I imagine there are people whom you have helped who would volunteer to pull together research data with your guidance.

  111. Barbara March 7, 2017 at 8:23 am #

    I have a 2 year old patient who was diagnosed with hypothyroidism at 3 weeks of age and tranverse mylitis at 10 months of age. Is there possibly a link?!?!

  112. Lisa March 26, 2017 at 7:50 am #

    Everyone must obey God’s laws, for things to go well for them. Jews are bound by the laws and must learn the laws to stay in God’s good graces. Christians are also bound by God’s laws but God writes the laws in the conscience of Christians. MTHFR gene mutation is God’s mark on Christians to not consume folic acid. Folic acid is a man made replication of nature and a graven image. For that reason, we can use the MTHFR gene mutation thing as an example.

    Those from Christian nation ancestry have homozygous MTHFR gene mutations. Those who have no MTHFR gene mutation are from Jewish ancestry. Those who have heterozygous are mixed. Those who have no mutation and those who are mixed do not have enough Christian marking to have the conscience to not consume folic acid or break God’s other laws, which is why Americans are so ill.

    Because everyone in America is not Christian and because America’s laws favor the idea that Americans are Christian and have such a conscience to avoid breaking God’s laws, we have such a mess, in America. There are so many Jewish and mixed people in America but they are not aware of that fact and because they are not aware of the fact they are Jewish they are not aware of the fact that they are responsible for knowing and keeping God’s laws and because they aren’t keeping God’s laws, they are becoming ill and America has all sorts of social problems.

    America is damned because God is angry with America. America has no laws to prevent its citizens from breaking God’s laws and America is also not making pleasing sacrifices, to God, for the sins of its Jewish part of the nation. After what happened in Germany, nations became responsible for making the sacrifices for their Jewish citizens because God took the conscience away from Jews to take their own sacrifices. The Jews were put into concentration camps because they were killing Christians, as sacrifices, for their sins.

    America was not a Christian nation. America was either a Jewish or mixed nation. America is certainly a mixed nation, now. At least some of the Native American Indians were Jewish. I have heterozygous C667T MTHFR gene mutation. I’m at least half Jewish. My grandfathers were Jewish. My paternal grandfather was Arabic. My maternal grandfather was Native American Indian. I’m not certain of my paternal grandma’s ancestry but I’m going to guess it could be Christian. My maternal grandma had her ancestry done and she was Irish, which is Christian.

    I’ve had Christianity preached to me, all of my life, and I’ve had Jesus but I’m not a full Christian; I’m mixed. My father’s dying wish was for me to stop smoking cigarettes. My father passed away from lung cancer in December 2011. I smoked part of a cigarette in 2012 and couldn’t stand it. My father is now satisfied that I have honored his dying wish. I now have God with me. Now, I know these things. I’m 51 years of age. When God came to me, Jesus also came to me. God wanted me to correct America and Jesus wanted me to help America.

    My father and his parents knew he was Jewish and they were very hard on him and did all they could to correct him, so God wouldn’t. God can be quite harsh, in His corrections. I’m proof of it. I’m on my last leg (amputee) and I’ve been so sick for the past few years. I became so ill for committing adultery, for consuming folic acid (graven image), consuming Vitamin D2 (graven image), consuming methadone (graven image), consuming steroids (graven image), and consuming simvastatin (graven image). I was very sinful, all at the same time and I didn’t kill and take any sacrifices. I nearly died. I loved my grandma but let’s just face it, my mother’s mother was Christian and she was somewhat a bully and she ran things. She insisted on having things her way. My mother was raised Christian but she is mixed, which is why she didn’t learn to behave herself, which is why she seduced a nice Arabic Jewish boy and now I’m here. Like her mother, my half Jewish mother insisted on raising her Jewish children Christian. Christians have a tendency to be bullies. Consider what they did, when they came over here and took over America, from the Indians and consider what they did to the Indians and African slaves. They think everyone is Christian and that everyone has Jesus just because they are Christian and they have Jesus. At the same time, if they truly were 100% Christian, would they have done some of these things? Jesus didn’t make that sacrifice for Jews. You are either Christian or Jewish by ancestry and genetics, not necessarily by what you have had pounded into you and preached to you.

    Americans are becoming ill and America needs to be corrected.

    • G April 20, 2017 at 12:46 pm #

      Lisa,
      I believe that you should do more research. In my opinion, god had nothing to do with our scientific medical research. This has been a proven genetic mutation. I have a C677T mutation. Your post is offensive and should be removed. Only ignorance could blind someone so much. Preach somewhere else.

      • John May 30, 2017 at 6:02 pm #

        G, despite your objections to religion, I think Lisa has a valid point. Religion has a LOT to do with lifestyle, and lifestyle has a LOT to do with genetic mutations. So it stands to reason that your ancestors – and their religious beliefs – would influence your genetics today. While Lisa may not be as smooth and charismatic with her words as you, she still deserves the right to speak her mind and discuss what she desires. And that offends you? Right? You’re offended? So handle it like an adult. It’s not like anything happens when you’re offended. It’s not like being offended stops you from living your life, or prevents you from receiving life saving information. Your own ignorance might prevent you from receiving life saving information, but not Lisa’s post about religion. I’d like to think that people here are free to talk about ALL possibilities and be accepted. But you are condemning others for their different opinions, and smearing Lisa specifically because her post was regarding religion. I’d call your Prejudice behavior not only a grave injustice towards Lisa but it generally makes you an intolerant, bigoted & disgusting person.

        Lisa, I think you have valid points. I think they need to be researched more and more in-depth in order for “offended” people such as G to accept or understand. I think there is something to be said specifically about the connection to the religion of past generations and MTHFR mutations, among other connections. Especially considering that religion and diet are linked together so close. I don’t think the God of the Bible Post-Jesus works intentionally to punish people who don’t follow His ways. Rather, I believe that our genetic mutations and such are the natural consequence of generations of sin. I would also like to think that we can heal from these mutations through diet and life style changes, specifically in the microbiome. For example, Fruits and veggies have their own immune systems that kill off damaging bacteria, fungi and mold. But there are beneficial bacteria that survive on and in the plants themselves. Meaning that if we can eat a diet primarily of whole, raw, organic, home grown fruits and veggies and completely eliminate all traces of pesticides and other cancerous, gut-damaging chemicals (if possible) – then the bacteria in our food will, eventually, replenish our gut bacteria. And in restoring the gut, we will restore our body back to a more healthful state.

        But we must also understand that our world is headed for disaster, and even the Bible tells us this. We are in the middle of a great controversy between God and Satan, with Satan accusing God of being a tyrant. And humanity has been caught in the middle. The results of the choices that Adam and Eve both made are still playing out today in front of the entire universe. Our struggle is still illustrating the full effects of sin, not only on a personal level but also in the destruction of our planet. Our planet is polluted, our food is genetically modified, vaccinations and other injections that we don’t fully understand are causing great concern for health issues, and the stress from the way this world operates is significant especially for those sensitive to stress, and everywhere you look are lies and propaganda. We know the world is headed for disaster. I don’t think that God wants this for us explicitly, but He will allow it to happen because this is the path this world choose. Christians are called to suffer for the sake of ourselves as well as others. It’s uncomfortable – definitely not fun – but it changes you and changes your mind and sometimes forces others around you to change as well…But I digress. Suffering is a necessary part of life.

        As such, we may never find perfection in our genetics or our health in general. It may be a down hill slide from here. It’s hard to know for sure. But I do believe that God can lead each of us individually to the answers we are seeking. As for me, I was living in a moldy apartment. I had no idea what was happening to me at the time. And I struggle with the effects of that mold exposure today, years later. But even on my bad days, despite how I am feeling, I am learning more about the way I treat others and trying to find ways to do better. So you could say being exposed to mold and directly helped to build my character. Each of us has to overcome the challenges presented to us in this life, and with Jesus leading the way we can know that we are headed to better things.

  113. Karen Hudson March 28, 2017 at 3:05 pm #

    Hi I am being tested for MS, I have received a letter from my Neurologist who has diagnosed me with CNS Demyelination, Folate deficiency (1.7) Ferritin at 28 and vitamin D at 20, ACE was raised at 91 and a Rheumatoid factor of 35.1, Whilst talking to a support group the MTHFR mutation information was sent to me, I was alarmed at not only recognising some of the symptoms fitting me but it has raised a big question about my 3 sons and their fertility, the eldest 29 is infertile, my 27 uses no birth control with his girlfriend of almost a year and I have suggested to my 24yr old son that he has a fertility test, does the MTHFR mutation cause infertility in offspring?

  114. Al C. May 5, 2017 at 9:52 pm #

    I read the study hot linked to #49/Premature Death. The findings reported in this paper do NOT support inclusion of Premature Death on your list.

    • Dr Lynch May 10, 2017 at 1:48 am #

      You’re right – apologies. I’ve corrected that.

  115. Anne Sofie May 28, 2017 at 8:41 am #

    Hi. Thanks for this. It is quite some list.
    Do you have any commments on MTHFR mutation and copper?
    Have been looking into this recently because of lung cancer diagnose (NSCLC, adenocarcinoma EGFR mutated, 42 y) and research seems to indicate that copper is an important factor in disease development and metastasis.
    Had a copper IUD prior to diagnose!
    I’ve started copper chelation (Tetrathiomolybdate) to bring copper down.
    Any comments?
    Thanks, Anne Sofie.

  116. Lisa June 8, 2017 at 10:23 pm #

    I am homozygous for MTHFR C677T and I have 3 children. One is heterozygous, one won’t do the test and the other doesn’t have it. I was just told they would all at least be heterozygous some I’m homozygous. Is this correct? They were tested through a medical lab that cost me $600 so I would hope it’s accurate.

  117. Michelle Ouellette July 26, 2017 at 2:22 pm #

    Please update the list!!! It is SO difficult to find a professional in the New England area, specifically NH, who knows what this is never mind help in treatment!

  118. wolf max July 27, 2017 at 9:46 pm #

    maybe have someone update this list since 2012 (and narrow it down and maybe use a tree structure)

  119. Michele July 28, 2017 at 2:43 pm #

    Hi… I have another comment/question pending (waiting moderation) and thought of another question. In skimming through this list, I saw this reply by the awesome doc :-): “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 ?” I know you’re a busy guy… do you have a time frame as to when the new site will be unveiled? I’m looking for some information re: MTHFR and Peri/Menopausal issues. How should supplementation be adjusted, if at all? Should additional lab testing be done for certain markers? Thank you so much for all that you do and continue to do for all of us!

  120. Laura December 27, 2017 at 6:01 pm #

    What about Cleidocranial Dysplasia?

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    […] But for those who have been consuming too much folic acid and have had the enzymes needed to process it suppressed (source), or are unable to process even small amounts due to fairly common gene mutations (source), this attempt at helping our health is causing similar symptoms to the deficiency that we’re trying to prevent (source). […]

  23. My MTHFR and miscarriage journey - Healing in Our Homes - July 20, 2016

    […] And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions. […]

  24. MTHFR – How to Test and Understand the Results – The Vienna Report - August 25, 2016

    […] loss is the most known side effect of MTHFR. However, most people are unaware of the 64 other associated conditions as tongue tie and even some heart defects, bedwetting, and scoliosis!  This is a very […]

  25. What is an MTHFR Mutation? - HealthRemediesforLife.com - October 1, 2016

    […] MTHFR.net Dr. Ben Lynch has an exhaustive list of conditions that have been abel to link a defect i… gene. […]

  26. A must-read article about copper toxicity and MTHFR disorder! | healfromcopper - November 1, 2016

    […] And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, various heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions. […]

  27. Folate: If You Can't Make It, You Gotta Take It! - Creating Silver Linings - December 14, 2016

    […] it’s not surprising that the list of conditions related to this defect is incredibly long. Many cancers and mental illnesses are listed as well as […]

  28. Healing Autoimmune Disorders – LE Woman - January 19, 2017

    […] tested positive for the MTHFR mutation. Now, I know what you’re thinking. I also thought it was a swear word! MTHFR stands for […]

  29. Methylation Polymorphisms are more Complicated than MTHFR - February 1, 2017

    […] important for proper detoxification. No wonder MTHFR variations are related to diseases like: Autism Addictions: smoking, drugs, alcohol Schizophrenia and Bipolar Disorder Fibromyalgia Chronic […]

  30. Mutant MTHFR – IViF - June 7, 2017

    […] disease, high blood pressure, glaucoma, clotting issues, asthma, and bladder/prostate cancers, (here is the long list!) depending on which version of this fun mutation you have… There are more than 50 variances of […]

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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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