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
- Autism
- Addictions: smoking, drugs, alcohol
- Down syndrome
- Miscarriages
- Pulmonary embolisms
- Depression in Post-Menopausal Women
- Schizophrenia
- Fibromyalgia
- Chronic Fatigue Syndrome
- Chemical Sensitivity
- Parkinson’s
- Irritable Bowel Syndrome
- Pre-eclampsia
- Stroke
- Spina bifida
- Esophageal Squamous cell carcinoma
- Acute Lymphoblastic Leukemia
- Vascular Dementia
- Bipolar disorder
- Colorectal Adenoma
- Idiopathic male infertility
- Blood clots
- Rectal cancer
- Meningioma
- Glioma
- Congenital Heart Defects
- Infant depression via epigenetic processes caused by maternal depression
- Deficits in childhood cognitive development
- Gastric Cancer
- Migraines with aura
- Low HDL
- High homocysteine
- Post-menopausal breast cancer
- Atherosclerosis
- Oral Clefts
- Type 1 Diabetes
- Epilepsy
- Primary Closed Angle Glaucoma
- Alzheimer’s
- Tetralogy of Fallot
- Decreased telomere length
- Potential drug toxicities: methotrexate, anti-epileptics
- Cervical dysplasia
- Increased bone fracture risk in post-menopausal women
- Multiple Sclerosis
- Essential Hypertension
- Differentiated Thyroid Carcinoma
- Prostate Cancer
- Premature Death
- Placental Abruption
- Myocardial Infarction (Heart Attack)
- Methotrexate Toxicity
- Nitrous Oxide Toxicity
- Heart Murmurs
- Tight Anal Sphincters
- Tongue Tie
- Midline Defects (many are listed above)
- Behcet’s Disease
- Ischemic Stroke in Children
- Unexplained Neurologic Disease
- Asthma
- Shortness of Breath
- Bladder Cancer
- 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.
Doctors! Start screening your patients for MTHFR.
Additional Research:
I am shocked by the list of possible disorders and I have 5 of them!!! Wow I never knew.
Hi Elaine –
Thank you for your comment.
Yes – it is truly amazing how significant MTHFR is for our body to function properly.
What is even more amazing is the lack of understanding by the medical community.
Doctors need to treat the cause of disease and practice prevention.
That is not happening…my goal is to make it start.
I appreciate your taking the time to comment.
Do share this post with others so they too can understand the significance of MTHFR.
Have a great weekend!
Best
Dr Ben
Please come to New Mexico and educate our docs here! I haven’t found one that has a clue what MTHFR is. I need to find a doctor that is educated on this and so far no luck!
Just received this via email:
” Hi Dr Ben, My husband and I have both recently been diagnosed with a MTHFR variant and I am hoping for some advise. I have gained quite a bit of information from you website and I must thank you for that.
Recently I was pregnant after trying to conceive for 5 yrs and eventually having success on our first round of IVF. For five years I’d done everything I could to conceive naturally, had amalgam fillings removed and tried detoxing my system. Eventually I was diagnosed with endometriosis, which I had surgery for, and a uterine fibroid, which they left alone. I went into premature labour at 17 wks gestation, subsequently after medical intervention failed, I delivered a live baby boy at 18 wks 1 day gestation. This was on the 2nd of July 2011 and our little boy died very soon after birth. They believe, but do not know for sure that this was caused by incompetent cervix. On examination of the placenta they found blood clotting on the foetal side and as a result we were tested for clotting disorders. It has been found that I am heterozygous C/T 677, no other clotting disorders were found. My husband is heterozygous A/C 1298. They believe our baby may have had both and although they don’t think it caused my pre-term labour, he may have had intra-uterine growth restriction from the MTHFR mutations.
My obstetrician said it’s not such a big deal but recommended 5 mg of normal folate and also B6, B12 and B1 & blood thinning injections for me in pregnancy for the first 20 weeks. She only suggested that I need to do this in pregnancy and for my husband only for pre-conception. My GP seemed to have a better understanding of how to treat it, as she has recommended the active forms and for us to take it all the time, but still didn’t think it was a big deal. she was also not that clear on optimal dosages. I am in Australia and I have found a doctor here that specialises in treating MTHFR. However he is not even considering taking new patients until next year. I have been trying to search for what products are available here in Australia and I’m finding it a little difficult to get information and find people who understand it properly. I was recommended to order Methyl-guard and the other suggestion I’ve had is Dr Vera’s products. Your formulation, HomocysteX, does sound very good and I’m wondering if it is able to be shipped to Australia? I am also wondering what sort of dosages would be recommended in our circumstance. I am starting to think that MTHFR may also be a contributing factor with many other of our health issues. Thank you very much for your time.”
I will respond soon.
Dr Ben
I am also in Australia. Possible to find out name of doctor knowledgeable about MTHFR?
Hi, I have just got back from Melbourne in Australia, and I was able to see my daughter’s naturopath, who knows about MTHFR. She is Alessandra Edwards, website: reclaimyourhealth.com.au, email admin@reclaimyourhealth.com.au. Hope she can help, if you live nearby.
I have been seeing Dr Eun at Sydney Integrative Medicine in Surry Hills, Sydney. She had me tested for MTHFR and is knowledgable about it.
Hi Dr Ben,
I found out last Christmas that I have MTHFR after having several miscarriages. I have two children now, 6 and 2.5…and my littlest one I am so worried about. He is very skinny and is not gaining weight. Could my MTHFR be passed to my children? Could it cause growth deficiencies? What should I worry about? The doctors ran a bunch of blood tests and they were fine. They did a bone aging xray and that has cause some “high concern” according to the dr. Early today I did not even think to mention MTHFR although I remember reading that it could cause issues with my children. I was so worried about my son that I forgot about my own issues. They say there are more test that has to be done as soon as possible…and they tell me not to worry. Any thing you can tell me, would be great.
Thank you!
Nicole
Nicole –
I’m thinking positively for your son. Once you find out what is wrong, and you’d like a second opinion, please do consider scheduling a consult with me. Children are meant to be healthy and it pains me when they step out of it – even if only briefly.
As a father of three children and a physician that approaches ‘disease’ from an different perspective, I may be able to shed some light on causation and effective approaches for your son. http://www.healthegoods.com/consult.html
Yes, as a mother with MTHFR, you can pass a mutation on to your children. Their father can as well if he has a MTHFR mutation. Doctors seem to forget that fathers play a role in genetics here.
I recommend testing your husband for the MTHFR gene mutation. If he has it, then you need to test your children as well.
http://www.healthegoods.com/mthfr-test.html
If your husband doesn’t have any MTHFR mutation, then you know that your children have at least a 25% chance of getting your MTHFR mutation.
If your son has grown difficulties, there are many things possible for that – including simple nutrient deficiency.
Keep me posted – and again, I am available for consultations should you need one from a functional perspective.
I recommend waiting until you get further lab results back.
Sending healthy positive thoughts,
Dr Ben
I just found out yesterday that my 20 yr.old Autistic son is positive for one copy of the C677T mutation & one copy of the A1298C mutation. The only reason we found this out was because of an abnormal Thyroid lab result. I took him to an endocrinologist who said he wanted more tests done..and here we are. Now everything makes sense. He was developmentally delayed and eventually they said he had Autism. He was hospitalized three times from age 7 to 12 with psuedo cerebri tumor unknown idiology. He has had no symptoms of that since age 12. My mother had 6 miscarriages before she had my sister & I. One of my sisters was born with Spinabifida and died when she was a baby. My Mother had several strokes & heartattacks before she died at 62. She had diabetes and so do I. I am going to be tested next week for MTHFR and so is my sister. Here is my question.. If I have it does my two older boys have it too? My one son has a drinking problem but the other has a Phd. Does it skip generations?? Thank you in advance.
Cheryl –
MTHFR mutatations are passed down through families. The odds of getting a MTHFR mutation depend on how many copies the mother and father have.
It does not ‘skip’ generations – it simply depends on the odds of getting a MTHFR mutation from either or both parents.
If you have it, your two older boys may have it – especially the one with the drinking problem as addictive behavior is linked to MTHFR mutations.
Was pregnant with #5 baby (lost my 3rd and 4th precious ones in utero) when they found out I was C667T and A1298C MTHFR, Protein S deficient, IgG was messed up, and there was another deficiency. I want to say Protein C? I threw 2 DVTs is why they found them. Now I am post partum a year and have started reverting back to previous symptoms related to CFS. I am dumbfounded that these (MTHFR and CFS) could very well be related. You are correct when you say that Docs aren’t too familiar with any of this. In pregnancy they were all clueless on how to explain it all. They just kept telling me, take your Lovenox and be happy your baby is ok for now. Thanks for digging deeper!
I’m wondering if a MTHFR mutation is a possiblity if I don’t have many of the issues listed, but do have some (MS, chemical sensitivities, gut issues). I had no trouble with miscarriages, and I don’t have high blood pressure (I tend toward low), and my HDL is great, and so on. What makes me really wonder, though is that my son has type 1 (and seems to be heading into chronic fatigue – makes me sooo sad), and my sister has had many miscarriages (no full pregnancies) and migraines and mental health issues. A half sister has epilepsy, and the father we share died young (30s) with addiction issues, type2, and heart disease, and his mother had Alzheimer’s. So, although I don’t have a lot of the issues, there are lot in my family. But does that matter, or does a person need to personally have a lot of the issues listed above for it to be a possible contributor?
I very much appreciate all the detailed information here. And I will be coming back for more if I test positive.
I actually just found out from my doctor today that this is what has caused all of my miscarriages. I have both mutations. Are there some articles that can help me learn more?
I just found out today that I have one of the mutations. My doctor didn’t go too much into detail about it but prescribed me some medication to help my body absorb folic acid. The only thing is that I am confused about it all still. I have two healthy little girls and have never had a miscarriage.
are you familiar with a connection of MTHFR to interstitial cystitis? iwas following another thread on vitamin B12 and ended up here. I also seem to become randomely allergic to thing that didnt bother me before including b12…the supplements give me hives on the soles of my feet and the palms of my hands.
Hi Lauren –
A direct connection – no. However, MTHFR does predispose one to increased histamine, decreased healing (due to decreased DNA production) and a weakened immune system. In order for interstitial cystitis to subside, it needs to have tissue repair, immune system intact and functional along with normal levels of histamine.
Which form of B12 were you taking – and what were the ingredients? And how much were you taking?
Lauren,
My naturopath told me about MTHFR after years of being exhausted and sick with many medical problems; doctors couldn’t figure out why I was so sick, but I was diagnosed with IBS at 14, Interstitial Cystitis at 25, constant anemia, fatigue, systemic yeast infection, and so many other symptoms I can’t remember.
I mention this because the worse the Interstitial Cystitis got, the more foods irritated my system, including the B12 vitamins I took! B12 gave me symptoms like a UTI. I had to resort to getting shots, which did not irritate me. I also had constant inflammation in the sinuses, which made me stop breathing at night, in the digestive tract, of course you know where inflammation is for Interstitial Cystitis, and in my injured knee.
I wanted to let you know in case any of this is affecting you. Also, the foods didn’t always filter through to begin irritating my bladder for a week or more (but sometimes faster), so it was hard to track. I haven’t been officially tested yet, although I will as soon as I can, but my family has depression, anxiety, schitzophrenia, heart problems, autism, Parkinson’s, addictions, so many of the linked health problems that I will be surprised if I don’t have it.
One more thing I think of; I started reacting to codeine and a few other medications which never gave me trouble before as well–and then I was able to take it another time, without adverse reaction.
Rachael, wow your history sounds like mine, starting at age 14 i had severe menstrual cycle and IBS started about 16-17 for me and then IC age 24. I have 11 genetic mutations, including CBS and MTHFR. I am sensitive to sulfur foods and have trouble with FODMAPS foods (specific carbohydrates). Anxiety run on both sides of families depression and addiction on dads side and heart attack/strokes on both sides. I’m lucky i only inherited 1 copy, but it’s still been a lot of symptoms with only 1 copy because i had a lot of chemicals,heavy metals in me. ~ Good luck with your research and treatments. I think we’ve found something that will lead us to feeling better soon. 🙂
Lauren,
My naturopath told me about MTHFR after years of being exhausted and sick with many medical problems; doctors couldn’t figure out why I was so sick, but I was diagnosed with IBS at 14, Interstitial Cystitis at 25, constant anemia, fatigue, systemic yeast infection, and so many other symptoms I can’t remember.
I mention this because the worse the Interstitial Cystitis got, the more foods irritated my system, including the B12 vitamins I took! B12 gave me symptoms like a UTI. I had to resort to getting shots, which did not irritate me. I also had constant inflammation in the sinuses, which made me stop breathing at night, in the digestive tract, of course you know where inflammation is for Interstitial Cystitis, and in my injured knee.
I wanted to let you know in case any of this is affecting you. Also, the foods didn’t always filter through to begin irritating my bladder for a week or more (but sometimes faster), so it was hard to track. I haven’t been officially tested yet, although I will as soon as I can, but my family has depression, anxiety, schitzophrenia, heart problems, autism, Parkinson’s, addictions, so many of the linked health problems that I will be surprised if I don’t have it.
One more thing I think of; I started reacting to codeine and a few other medications which never gave me trouble before as well–and then I was able to take it another time, without adverse reaction
hello, i was dx with double mutation mthfr in 2009, but here are the issues Ihad leading up to that in 2008 I had two miscarages and after the second it was just down hill from there. I started having migranes on a daily basis, fingers were going numb as well as feet, couldnt keep balance was dizzy and confused all the time then started having blackout moments I couldnt see hard to breathe hot sweats, and irratated all the time. Finally woke up one morning andcouldnt stand one side of my face was numb left arm wouldnt work, speach was awful. Check in at the emergency room was told I had bloodclots in the brain, and arms and legs, and I was having strokes I was diagnosed at that time with endocardists.well three months later it started happing again found out I was expecting so i went and saw a ob specialist thats when she said I was treated for wrong dz, at that time she put me on aspirin and folicacid, b12 and b6 and lovenox. I had a healthy baby girl and so we are now left with daily symptoms. I HAVE DAILY HEADACHES SOME LEAD TO MIGRAINES, dizzy spells, memory loss numbness exct….. were should I ask my dr to send me so I can g et back to feeling good?
Elizabeth,
Anyone with MTHFR should not take folic acid or any form of b12 other than methylcobalamin. The body cannot metabolize those inactive forms. Take L-5-MTHF (Metafolin) and sublingual methylcobalamin, plus other cofactors.
Elizabeth and Lynn –
There are some individuals with MTHFR which may find hydroxocobalamin to be more effective – esp those with COMT and or MAO A mutations. It does vary from person to person. I am learning more about this daily.
Those MTHFR individuals who may find hydroxycobalamin to be more effective – does it matter which form of MTHFR they have?
Hi Dr Lynch, Earlier today I was reading your comments in SHEicon forum regarding use of hydroxycobalamine & you stated there that hydroxy Cbl may not be good for those with COMT++ as they still need more methyl groups and possibly even more so as dopamine and estrogen are not clearing out fast.
This is in contradiction to what you have suggested here. As the learning continues with newest research and better understandings, may I request to clarify as to which type of Cbl is more suitable for COMT and would it change for COMT++ vs COMT+- ?
Thanking you in anticipation & look forward to further learning from you. 🙂
Depends on the person. Some do well with methylcobalamin and others do well with hydroxocobalamin.
It is easiest to simply try which one they do well with.
COMT cofactor is SAMe and magnesium.
Issue is if someone’s MTR/ methylation pathway is blocked for some reasons – due to low MTHF, low B12, low glutathione, etc – then SAMe will backfire.
I recommend reading this article first –
http://mthfr.net/preventing-methylfolate-side-effects/2014/11/26/
Basing nutrient recommendations from a SNP is not feasible. I fell into that trap years ago but it is not the right thing to do. The body ties it all together. We cannot isolate one gene with a single nutrient. Not possible. It’s all linked.
After suffering several miscarriages I saw a Reproductive Immunologist who tested me for a million possible conditions. My blood test results showed that I am homozygous for A1298C. I have numerous “minor” autoimmune conditions (eczema/psoriasis, Lichen sclerosus, gluten intolerance), but the miscarriages and Chronic Fatigue are issues I couldn’t ignore. I knew they had to be connected somehow and this mutation seems to explain them all. The reason I’m commenting may be considered petty, but I’m actually doing it out of pride for my adorable son! I have a gorgeous 5 year-old boy with Down syndrome. Your articles have been eye-opening and I intend to have my son (who also has Celiac Disease, casein and soy intolerance, Hashimoto’s, and chronic sinus infections) tested for this condition as well. It sounds like a given that he’s got the same mutation! (I’m going to have my husband tested too) Most people think his syndrome is called “Down’s Syndrome” or “Down Syndrome”, but it’s actually “Down syndrome” (Capital D, lowercase s). Just an FYI! Thank you again for your insightful articles!
I wish I had read this many years ago… but I am thankful that Drs are now becoming more aware. I had a very difficult time getting pregnant, and menopause fairly young. I’ve had a lifelong problem with digestive problems. About 10 years ago I went thru problems with memory and panic attacks and severe hair loss, every doctor I saw wanted to put me on anti-depressants until I saw a Dr that specialized in nutrition and tested me and found I have MTHFR gene mutation. I began taking b-12 shots and Deplin which helped. My question is that now that I no longer have health insurance, its difficult to pay the monthly charge and the Dr. I’m now seeing when I told her of the mutation, told me to take an aspirin everyday for stroke and didn’t prescribe anything. What do you suggest I should do to help me avoid the problems associated with MTHFR mutation? thank you.
Soma,
You don’t need prescription methylfolate or B-12 shots. You can get OTC L-5-methyltetrahydrofolate (L-5-MTHF) and take sublingual methylcobalamin, and they cost a lot less. Dr. Ben sells such products here http://www.seekinghealth.com/best-supplements/l-methylfolate-calcium-supplements.html. Or, you can get Solgar Metafolin (L-5-MTHF) or Jarrow or Enzymatic Therapy methylB12. When looking for methylfolate, it’s important to get the L-forms and not the racemic forms.
Hi Dr. Ben, I am positive for heterozygous A1298C and have very many health issues. I have had four miscarriages and finally conceived by means of donor IVF. I was pregnant with triplets but the identical twins miscarried. My son was born with tetralogy of fallot He also was dx with autism at 24 months. I knew I had the gene mutation but my drs did not think it was relevant. I also am positive for heterozygous PAI 4G/5G polymorphism. I was told to take 4 mg of folic acid / 1 mg b-12 / and 50 mg of b6. Also baby aspirin. I did so throughout my pregnancy. I also had to get rhogam shots due to being A negative. I’m wondering if my issues could have caused my sons issues even though he is not genetically mine? He is now also being tested for MTHFR mutations and cerebral folate deficiency ( folate receptor antibodies). I’m trying to uncover all his issues. He has had many tests. Yeast/ bacteria overgrowth which I suspect for myself too. Is it true that people with MTHFR cannot detox properly? He is currently using homeopathy also for vaccine damage. Any advice would be much appreciated. I will sched a consult if needed. Thank you
I have the A1298C mutated gene and discovered this after 3 late missed miscarriages (also had a couple of early miscarriages). I had a healthy baby boy, a late missed miscarriage, then a healthy baby girl, a late missed miscarriage, a early miscarriage, and another late missed miscarriage and I’m now 13 weeks pregnant & taking 81mg of ASA & Lovenox along with the prescription folic acid (folbic). My mothers family has a long hf of alcoholism and they are from native Indian descent. Does alcoholism or Indian heritage have more of a risk for MTHFR & does alcoholism cause the mutation? My son was also recently diagnosed with PDD and I have had several of the issues you list r/t the MTHFR. I’m so interested in finding out more for my family.
MTHFR mutations make one more susceptible to alcoholism. This gene mutation is present at conception. Alcoholism is a risk factor that may enable the MTHFR gene mutation to become expressed. MTHFR and alcoholism both lead to deficiencies in the B vitamins.
Folic acid is not useful for people with MTHFR mutations. It is a synthetic and people with MTHFR can’t metabolize it. You need the metabolically active form of folate L-5-MTHF. One commercial form is called Metafolin. You also need methylcobalamin B12 and other cofactors.
I plan on discussing the metafolin & L-5-MTHF supplements with my provider, but based off what their nurse tells me, they only prescribe/recommend the folbic. I’m hoping this group of doctors is open to considering the better alternative for their patients. I recently visited a family practice physician & mentioned the MTHFR mutations & how I was diagnosed & he was very interested in learning more and was not familiar with theS term MTHFR. I recommended this website & gave him Dr. Ben’s name. Some doctors will be open to listening to their patients & can benefit from this information, while others may not (unfortunately).
Nelwyn –
I appreciate you trying to increase awareness of the MTHFR mutation and what it causes. It is patients like you who make things happen and get doctors to learn new things.
I have just been diagnosed with both mutations of MTHFR. I was wondering if my mother was a carrier could this have contributed to her vascular dementia? We are all surpised this happened because my mother has always maintained a healthy diet, never smoked or drank. She has never had high blood pressure or cholestoral levels. It is a huge shock to us that she has been having mini strokes for a few years now.
The past 6 months she has had two episodes of dizziness and nausea where she wants to stay in bed. Any help or advice would be much appreciated.
Susan –
Absolutely. Get her tested for MTHFR, homocysteine and fibrinogen levels right away. CRP also would be good to measure.
I can help here but need more details. A consult is a good idea once you get these numbers back.
Hi Dr. Ben,
Does this mutation (all by itself) cause these diseases or is it one of the factors causing the diseases?
In other words if I have this mutation then does it mean that I will have for sure some of the diseases?
Just trying to determine to what extend the mutation has an impact on someone’s body.
Thank you.
Alina –
Good question.
It depends who you ask.
I do not believe there in fact ‘diseases’
There are illnesses caused by various things such as bacteria, heavy metals, viruses, etc; however, the medical conditions named various things like Celiac or Diabetes or Cancer are in fact not diseases at all – they are rather signs of dysfunction.
To answer your question: MTHFR is a factor in causing dysfunction.
If you watch this MTHFR presentation – it may answer a lot of questions for you and your doctor.
Just found out that I have a MTHFR mutation and I have a few of these conditions and I know a lot of people in my family have some too. Hopefully, I can talk them into getting tested.
Dr. Ben,
I recently tested with you for MTHFR and my results were negative for both markers. Both of my adult daughters are compound heterozygous. (Their father is deceased and was never tested.) It’s my understanding that with them being compound heterozygous I would need to have at least one marker. I don’t understand. Can you please explain?
Thanks,
Diane
It is possible that your daughter’s compound heterozygous was passed on my their father. He could have given them one copy of A1298C and one of C677T. I believe the chances of his A1298C gene passing on, which is 50%, is independent of the 50% chance of his C 677T gene passing on.
Dear Dr. Ben:
I just stumbled upon your site. I can not even tell you, how happy I am that there is someone a doctor, out there who knows exactly what MTHFR C677T and A1298C stands for. As you have stated, this gene mutation is not very well known with the medical community, including many doctors who do not know what it is. This I know first hand. I was diagnosed in 2003, I have both gene mutations MTHFR C677T and A1298C.
I am 52 years old.
In my mid and then late 20’s I too, suffered 2 miscarriages.
No one could give me any answers? I was told by doctors, “Well it just happens”?
I was diagnosed with Scleritis of both eyes in 1990. I literally woke up one morning and both my eyes were totally complete blood red. I have been seeing a brilliant Ophthalmologist at UC Davis Medical Center, in Sacramento, CA. Thanks to him I am not blind today. I have been on optical prednisone everyday 3 to 5 drops into each eye for the last 22 years. I am so grateful for my sight.
In addition, I was then diagnosed with Ankylosing Spondylitis, (AS), and then Lupus SLE.
I have a Heart Murmur, severe asthma, (lung problems had phenomena 11 times), osteoarthritis and rheumatoid arthritis and psoriasis.
In 1998, at the age of 38 years old, I suffered a stroke. Yes, timing and medical attention are key. I am alive today, thanks to the wonderful treatment that I received in the Intensive Care Unit.
Still no one can say why? How could this have happened? No doctors could give me answers. I went to PH Therapy 5 days a week for 1 1/2 years. I if you saw me today you would not know I have had a stroke. Only when I am extremely tired do sometime I get right leg drag.
Then in 1999 I was again hospitalized for 2 weeks with 3 blood clots in my left leg. Again, no one has or had any answers. I was put on Coumadin 15 mg. daily, with weekly blood Protime Testing, moderating my INR closely.
In 2002, again I was hospitalized for yet another blood clot of my right leg.
Finally, in 2003 I was sent to a Hematologist. He informed me that he was going to preform a battery of blood labs and hopefully we may get an answer?
I received a phone call, to schedule a follow up appointment with the Hematologist.
The day before my Hematologist appointment, I had a retune scheduled appointment with my Internal Medicine doctor. She said, “Oh my God we finally have an answer to what is going on”. She was copied on the bloody work the Hematologist ordered. She asked me when I was to see the Hematologist? I told her, tomorrow. She said, “We finally have answers and they are mind blowing”. She told me that he needs to explain everything to me for he was the ordering physician…But we finally have an answer. Good Right?
Well, the next day I saw the Hematologist. We walks in and goes well nothing was found? The blood work found nothing out of the norm. I looked at him puzzled and then I said “Doctor, I am sorry but I think you are wrong”. He was taken aback and then took a very cocky cold attitude. I said, “Doctor I don’t think you received all the lab tests”. He said, “What are you talking about…Look everything is right here…There is nothing”. I then said, “Doctor yesterday, I had a regular routine scheduled appointment with my Internal Medicine doctor. My Internal Medicine doctor was blown away by what came back regarding my blood work”. She told me, “She can’t discuss it for she was not the ordering doctor, but tomorrow the Hematologist will explain everything to me and we finally have answers”. I simply said ” please give Dr. so and so a call she can tell you what the diagnoses it. He was beyond PISSED…(excuse my language). He stormed out of the office and got on the phone calling the doctor and asking what labs does she have and what does it show? He then called the LAB and chewed them out in addition to his staff. It was then, that he diagnosed me positive with both defective MTHFRA Genes C677T and A1298C. He then went on telling me just how rare it is to be diagnosed with both.
Thank God, I had the appointment with my Internal Medicine doctor the day before and she clued me in a little that they had answers per the labs. Had I not had that appointment with my Internal Medicine, I would have went into the Hematologist appointment blind….Not knowing anything…And he would have dismissed me for he did not have ALL the FINAL LAB REPORTS.
ONE MUST BE THEIR OWN ADVICATE!!!
I cannot stress enough…..Know what is going on with your body and your doctors.
Make sure your doctors have all your documentation. If they get pissed off…Too Bad… It’s your life!
In addition in 2003, I was hospitalized with MRSA, after a hysterectomy. I an catholic and was administered the last rights. I am very lucky to be alive today.
So, Dr. Ben…I am so grateful, that there is a doctor out there who is “Very Concerned” when it comes to the MTHFR Gene.
Today, I am presently on 12 1/2 mg of Coumadin every day except for Thursdays and Saturday’s, were I take 15mg.
I look forward, hearing from you.
My own was found after having pneumonia so many times. My left lung collapsed recently, and more of what caught my attention is my eyes turning blood red.
Back in 2009 I became very tired, ill feeling, along with severe weight gain. This combined after having pneumonia so many times. Recently, what used to be a well above average memory has slipped a bit. I could listen to someone speak and nearly repeat it verbatim although no longer.
I was reading through old medical records and having both was shown a few years ago, however, the diagnosis was to be explained by my doctor, who never did, and has passed since then.
Thank you for the input!
Hi Dr. Ben, I have a son who is 3.5 yrs old. He was Dx with autism at 23 mos. he was also born with tetralogy of fallot. He had complete repair at 2.5 months. We have a DAN dr who has done many tests on him. We have discovered he has Mthfr C677t mutation and positi e blocking antibodies for folate. Test done at SUNY. He has been slowly becoming more cognitive with increasing methyl folate, but he remains non verbal. He makes many verbal approximations but no real words. Wanted to know what An average dose of methylfolate and b vitamins are good for a 33 lb boy. And have you seen this before with mthfr c677t with delayed speech ?
I just found out about MTHFR from my new Naturopathic Doctor (Bastyr University). He is using l methyfolate to cure my type 2 hypothyroidism. I was taking huge doses of liothyronine, T3, to overcome my resistance to thyroid hormones and within days of starting the folate I had to start coming down fast on my dose of T3. For the first time all of my symptoms are fully controlled and I am amazed at how much better I feel. This disorder cost me a good life and left me destitute and in poverty. I am happy that I finally know what is really going on and not only have a treatment, but potentially a cure. Dr Ben please look into the relationship between MTHFR and type 2 hypothyroidism formerly called peripheral tissue thyroid hormone resistance.
Hello –
Yes – MTHFR and thyroid are linked. If one has MTHFR, converting tyrosine into thyroid hormone is reduced as the cofactor of methylfolate is inadequate. Once methylfolate is present, this pathway can once again work.
This is only one reason why MTHFR and thyroid disorders are linked. Of course, one has to look at the ability to eliminate xenobiotics is now more effective once taking methylfolate. Many xenobiotics affect the thyroid.
I am glad you are better 😉
Hi Dr Ben
I would be interested to know if there are circumstances where an overactive thyroid/goitre can be caused by MTHFR?
Thank you, Allie
Wow, the puzzle just keeps getting more and more complete. I have had thyroid issues for years, but no one has been able to treat it. My tests have flucuated constantly from low normal to normal – though we knew I had clear issues. I have nearly every hypo symptom in the book. I also have AF, so my cortisol is screwed up too. However, I cannot tolerate thyroid or cortisol of any kind, even at the lowest doses. I wonder now if this could have been my reason why all along. It would be nice to be able to lose weight again, have my hair stop falling out, not feel like I am exhausted all day long and so on. I so can’t wait to find an MTHFR ND or MD in my area.
Kiznkiten, may I ask who your ND is and where he is located? Thanks.
Isabella, I applaud you for your informative posts. You sound so similar to me, actually. I have a shocking amount of the conditions listed here:
1. Autism
2. hypothyroid, which fluctuates in being either unresponsive or intolerant to T4 or T3 medication
3. AF, and ME
4. PCOS (this may account for the weight gain, hair loss, and inability to conceive)
5. severe depression
6. migraines with aura
7. multiple food intolerances and allergies
8. fibromylagia
9. extremely poor circulation
10. permanently disdended, painful stomach
11. highly unstable body temperature
12. heart problems
13. chronic anemia
14. vitD deficiency
There are many more, but I’d be here all night lol.
Every PCP and endo I’ve visited has been less than sympathetic. I have changed them numerous times and now don’t know where to turn. Every ailment bar hypothyroidism has has been dismissed repeatedly, and I’ve had to make a ‘nuisance’ of myself (to quote one PCP) badgering them relentlessly for tests. In the end I still had to pay out of my own pocket for tests, all of which verified the aforementioned conditions. Yet my PCP does not listen to me, refusing to rx me Cortex and Florinef even though I am permanently fatigued, exhausted and zombified, and results SHOW low cortisol and abnormally low aldosterone. Neither will he agree to the MTHFR tests, despite solid evidence of their link with autism. So I will just have to pay out of my own pocket yet again, with money that I do not have, for a test from a private lab.
It’s ludicrous, doctors will not listen. They call us hypochondriacs, malingerers, nuerotics, mentally ill. We’re not. My quality of life has been on the decline for the last several years, and is now very poor, yet I am being told the only issue is my thyroid.
Might anyone here be able to advise me at all?
Naomi, time for you to get a new PCP. Never ever stay with a doctor who refuses to help you or who thinks you are not sick. Been there, done that, way too many times. And you don’t need a Dr. to take the MTHFR test. You can order one of the main ones at http://www.23andme.com Takes about 6-8 weeks to get the test results and they email them to you. Then find yourself a qualified ND who is very experienced in treating not only your other conditions, but MTHFR. It can be very complex, so don’t let them tell you it’s a one size fits all treatment. What state are you in?
According to your list, I have 10 of the conditions. On another list I saw on the net, which had additional symptoms, I had 14. I have multiple health problems that nothing has ever helped and we’ve never known the core cause. I am looking into cavitations right now, for specific reasons. Now I wonder if I could have this also. Now I just need to find an MTHFR MD or ND or So. Cal. You’d think here, there would be plenty, but haven’t found one yet. I saw a recommendation for one on a different website, but they had terrible reviews. I wouldn’t go to them. Thanks.
I was diagnosed with MTHFR in 2010 while I was pregnant with my 3rd child. My 2 previous pregnancies where complicated by preeclampsia and I actually went into renal failure with my second. While pregnant the 3rd time they told me I was clotting so bad that it was killing off part of my placenta so after a $2000 blood screen MTHFR and 2 plasma gen activators came back. I started taking lovenox 2x a day, baby aspirin, and folic acid. I have had no treatment since then due to a lack of health insurance. Should I be concerned or is this like the preecampsia that went away after the delivery of my child?? I have a few symptoms that I wonder is they are related…I am depressed, constantly tired and weak, about 2 times a year I lose a LOT of my hair, my legs are extremely sensitive, and I have hypertension.
On a side note my father passed at the age of 41 from a massive blood clot. I was told this was a hereditary condition by my doctor who diagnosed me. Do you think he may have had this disorder as well??
April, wow, I have the hair loss thing too several times a year (in fact I’m in a heavy cycle of it right now) and I have constant leg pain and cramps. In fact when I first became “sick” about 17 years ago, crippling leg pain was my first symptom, before digestion issues were added. I have a clotting condition also, which I never knew about until some doctor I went to at UCLA for whatever reason decided to test me for it. About 10 years later, I decided to be retested on the clotting disorder, to see if I still have it, and not only do I still have it, but the doctor told me he had never seen anyone test positive on every single clotting test (I guess there are multiple, different clotting tests used when testing “clotting” as a whole). I never understood how I got this. My guess is that it was from having lyme (which I also supposedly have, but don’t remember being bitten by a tick). My grandpa had clots in his lungs, my grandma had massive heart issues, my mom has prolapse mitrovalve, etc. My grandma had horrible health issues, basically from birth, throughout her entire life. I wonder now if she too could have had MTHFR. I will never know. I take a nattokinase like supplement called Boluoke. No problems with it at all side effect wise and I think it probably has helped me a lot – though I still have never gotten pregnant – or rather, if I have gotten pregnant, I think I probably miscarried before my period came. I hope you find your answers.
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Dr. Ben,
I read all these comments with curiosity. I was just diagnosed with the double mutation. I have suffered for years from many of the symptoms on your list. Six years ago, I was diagnosed with Dysautomia, which causes much of the syndromes listed (such as IBS, Chronic Fatigue). I was wondering if you know anything about Dysautonomia and if there is a link to MTHFR.
Dr Ben, I have been wondering if i should check into MTHFR. I have numerous symptoms and a positive lyme test in 2007. The odd part is that I have fabry disease which is a genetic mutation. Could I actually have both of these? Wouldn’t the MTHFR have shown up when they did the fabry assay? They did know our family mutation when i was tested so i am sure they looked for it specifically. I have family members who do not have fabry but they sure do have a lot of MTHFR symptoms.
Thank you, Linda
I am a believer in MTHFR and that it is involved in so many problems. Actually it is probably an upstream cause for the many chronic illnesses which can be cured by improved methylation. Good info on this website.
I know i have mthfr but not sure if i have both. It’s kind of confusing. I was tested for it when I was pregnant since I had already had a dvt at 32. She tested me & I have this & factor 5 leiden. They just put me on blood thinners & called it a day. They said i didn’t have to mention mthfr since its not really anything.
Fast forward & after i had my son i developed thyroid issues. Graves disease, i barely could walk & all kinds of issues. Ended up with tendonitis & rotary cuff stuff which was wierd. I complained of arm pain forever & they never did anything. Now I have trigeminal neuralgia which they can’t explain.
it’s hell. Im just wondering if that could be why????
I just never feel well, ever & now this trigeminal stuff has stopped my life. im a single mom of a 3 year old & i can barely work & im so stressed which isn’t good but just curious if mthfr has anything to do with this?
Please excuse me if this has already been covered, but how does one go about getting their health insurance the pay for the test? Thank you, Laurie
I read that you have to have your doctor order the test to have health insurance cover the cost.
I think it depends on your insurance. I’ve had similar tests and some were covered and some weren’t. They were ordered by an ND who is authorized to prescribe Rx drugs and order lab work. Some insurance companies won’t cover ND tests and some will. It seems to me more NDs know more about MTHFR than traditional doctors do. But if anyone has a way to get Yasko covered by superbill submission or lab test request, I would love to hear it, as I have not taken it yet. Wasn’t sure if I should have an ND order it to see if I could get it paid for. I paid for 23andme myself.
I ran out of B6 and went only one week without it while waiting for the order. Twice during that week I had a simple partial seizure, and it’s been years since I’ve had them. I wondered if it was related to this, so I decided to search your site. I’m assuming this means it could be.
My thought was that perhaps a small blood clot in the brain could have caused it, but that’s only an assumption. There is still so much more I need to learn about MTHFR. (I have one mutated copy of C677T and one of A1298C.)
Ehler Danlos
Hi dr Ben
Is there any evidence that MTHFR or other SNPs may cause azoospermia?
Thanks
Sham –
I would say a LOUD, YES. MTHFR is the driving gene for methylation. Low methylation status causes low creatine and low carnitine – which are both known to be needed for healthy sperm. CoQ10 production is also involved with methylation and fertility.
Hi Dr. Ben,
How much CoQ10 should a woman take to improve her fertility? I read that a good daily intake is 100mg but my fertility clinic says 600mg a day. It seems to be a lot but maybe this is what is necessary to do the job? Or maybe the dosage depends on the quality of the supplement as well. I am using CoQ10 from Dr. Mercola for now. Is it a good one? Any other brand names that you would recommend?
Thank you very much.
Barbara
Barbara –
600 mg does seem like a lot – and you’re right – it depends on the quality. I am not sure what Mercola uses in his CoQ10. In the prenatal I’ve formulated, I’ve added 50 mg but it is a high grade CoQ10 – a new one that I’ve found which has incredible absorption compared to others I’ve seen.
I’ve not seen any harm with higher levels of CoQ10 – but there may be. I know the pocket book is one harm. Need to be looking at other nutrients also – like carnitine, creatine, phosphotidylcholine, etc
HERE’S A CORRELATION I WISH MORE WOULD PUT TOGETHER:
As we know MTHFR causes major issues with detoxing this backing up in the body. Autism is extremely common -98% I believe with autism have been found to have MTHFR gene deficiency. Autism is often misdiagnosed bipolar schizophrenia etc. SSRIs and antipsychotics are often given. Nearly every school shooting nationwide and abroad has been done by quiet loners often bullied fitting the autism spectrum bill. Those with the MTHFR gene would have been far more like to have suffered from toxicity of those very drugs thst lead to the homocidal suicidal ideation type side effects – whst I’m saying take the Adam lanza’s the Dylan kliebolds test their DNA and I bet you anything you will inevitably find out hey have at least one copy of MTHFR gene.
Please spread this around – people need to know the cause- the truth
Well stated, Scott! In fact, I just shared a link to this page and your comment on FB.
If only more medical professionals were like you, Scott.
In case you or anyone is interested, my story may support your case somewhat:
I am 28, was diagnosed with autism a few years ago and have an exorbiant amount of other health conditons. My parents are both on the autistic spectrum and have numerous serious health issues, as do several of my cousins. My elder sibling who is now deceased may have been autistic, too. I was forced onto antipsychotics and then SSRIs from age 13 when it was believed I had schizophrenia. Precisely as you said, these did nothing but make me feel suicidal and go emotionally overboard. I felt such hatred, loathing and resentment for some people and myself, that I wanted to kill them and myself. I never acted on it, fortunately, but the desire was there.
My parents, too, both of whom have been on antidepressants for nearly 2 decades, are extremely volatile. Both are alcoholics (my mother was also a drug addict) with emotional issues and violent tendencies. I have struggled with addictions, too, and whilst I am not violent or abusive I have a ridiculous temper on me. I also harbor grudges and have difficulty letting go of emotional pain.
Now, we are only one group related by blood, so perhaps it’s more a case of us being related that we all react badly to SSRIs? Is it something organic that always exists to a certain extent but is exaccerbated by the SSRIs? My parents were never clean living emotionally stable people- on SSRIs they’ve simply become an extension of themselves. I am not sure how I would have turned out had I never been forced to take the meds. My addictions came after taking being put on the meds, whereas my parents were addicts when I was born, but who knows if I may have developed like them independently of any medication? Definitely, more research needs to be conducted into the possible link between MTHFR, autism, addiction and antisocial thoughts relating to SSRIs or not.
I’m not sure how common it is. I have met plenty of people on the autistic spectrum or with autistic family members who have no such problems. I have met plenty who take SSRIs and are fine. I have also met a few who tolerated SSRIs so badly that they went on to take their own life. Is it an MTHFR-autism link, an autism link, a non autism MTHFR link, or something else entirely? Who knows, but I hope my story is of some use.
Hi
I am supposed to be tested for the MTHFR gene mutation later this morning. I told the nurse I was currently taking the recommended B vitamins by my acupuncturist because I was undergoing my 5th ivf and the doctor didnt feel at that time I needed to be tested. My question is will it effect the outcome of my results since I’m taking the b vitamin supplements? When I asked this question I was told just to cross off the order for the test since I’m being treated. I would really like to know if I have this mutation.
Thank you for any info you can share!
Sophie
It will still show up on the labs. It’s a genetic mutation, so the B vitamins are essentially treating the symptoms.
Martienne
Thank you for your reply! I was hoping that was the case so I did leave it on my lab slip. I’ve got to get some info on why we keep miscarrying.
my son was just recently diagnosed with autism and among other things we are dealing with our families saying he is ”normal” and we are trying to find excuses for our faults in parenting. my best friend recently found out that she has the MTHFR mutation and started to research it and it regarding autism as well as some issues that i have. (severe anxiety, depression, etc) my son was delayed in his speaking, he has always had major meltdowns, not just fits, and i’ve always had a feeling in my gut that something was off, i didn’t want it to be, but i wanted to FIX IT… i finally (against all my family) decided to go with the 3 different pediatricians advice and get him evaluated. 4 or 5 visits later with an psychologist specializing in autism, we found out – yes. he is autistic. high functioning. ok, now we have an answer, but how? why? how can we prove it? all those questions ran through my mind. i heard, ”i can walk into her office and have my kids diagnosed if i answer the questions right”…. they need to be educated and figure out how all of this works, how my son’s mind works. spending a few hours with him on a holiday or birthday party is not going to show you anything. he appears normal a lot of the time, but he’s not. he is STILL NOT potty trained. he is going on 4 1/2… he has been potty trained 3 or 4 times and back slid each time… he has trouble going to the bathroom, always has. fears and constipation and the kid drinks NON STOP, so i know he is well hydrated. i am now debating on whether to test him, my younger daughter, myself and my husband. i want to know if this is something they have (my daughter is advanced in all that she’s done, i’m not worried about autism, just worried about other issues regarding her health if she carries this)….. any advice is welcome, being hit with hundreds of things at once is never easy, but we’ve GOT to figure out what to do to help him, what’s best, and how we can cope. thank you!
Cori,
I just opted to have my autistic daughter tested through 23 and Me. I decided it was better to know, because treating it is simple, but the problems it causes, when untreated, is complicated. But, I would also suggest finding an Autism support group. When my daughter was diagnosed I found one, and it has given me more comfort than I can even express. I’m not one to reach out for help, so I just joined an online one. But, seven years later I have a lot of amazing Autism-Mommy friends. and I have found that everything we experience is “normal”…including the comments about how we just need to be better moms, and their autism will go away. (roll eyes)
Cori, try probiotics, try to treat your son’s gut system!
Cory
Have you considered the FISH test for your son as well? It’s not uncommon for kids who have significant developmental delays to have a chromosomal abnormality, and pediatricians are typically not aware of the link between developmental delays and chromosomal disorders. This was the case with my son — I knew something was different, and I had to push for further testing. He had some similar issues to your son. It was a neurologist who finally ordered the FISH test (years ago). More recently we also learned he has MTHFR gene defects — compound heterozygous — the worst combination. At least we know and can finally treat it.
Dear Dr. Ben,
My first son has Down Syndrome and I tested myself for the MTHFR gene mutation before deciding to have a second baby. The result was negative… So, should I have my husband tested too?
Yes, absolutely. But – more importantly, you need to monitor and maintain your homocysteine levels and check your urinary methylmalonic acid levels. Down syndrome is directly linked to elevated homocysteine levels during pregnancy. Maintain your homocysteine levels around 7-9 using B12, B2, B6, Methylfolate, TMG. HomocysteX Plus works very well in supporting homocysteine levels.
I’m really in need of the best methylfolate and vitamins to take. I’ve just been diagnosed with homo both mutations and my dr is only prescribing Folic acid 4 mg after 4 back to back pregnancy losses. I’m starting ivf tomorrow and have no clue what to buy that I will benefit from the most. One of our miscarriages was a Down syndrome baby. PLEASE PLEASE can you recommend the best combo to combat a double gene mutation?? The prescription ones say they don’t recommend in pregnancy I did call today.
Thank you kindly
Sophie
Dr. Lynch,
I would love to hear your thoughts on MTHFR and eczema. I have not yet been screened for any MTHFR mutations but recent labwork showed an MCV: 99 fL, Folate: 22.3 ng/mL, Vitamin B12: 546 pg/mL, homocysteine 8.4 umol/L, ferritin 36 ng/mL, off the charts IgE of 1405…
I have severe eczema and I would love any insight on why you may not have eczema on this list, is there not enough data to suggest there might be some causality?
Some studies that interested me:
The association between atopy and factors influencing folate metabolism: is low folate status causally related to the development of atopy?
http://ije.oxfordjournals.org/content/35/4/954.full.pdf+html
DNA methylation of the filaggrin gene adds to the risk of eczema associated with loss-of-function variants
http://www.ncbi.nlm.nih.gov/pubmed/23003573
Thanks in advance
I decided (finally) to seek a Dr that knew something about supplements and tried to get to the problem and not just treat the symptoms. Since I have taken all kinds of supplements over the years I was wondering if any of them were doing me any good or did I have expensive urine. She did several blood test which one was the MTHFR, now I had no clue what this was and really still don’t. I felt like I probably did have some genetic”issue” but even after the results (single mutation C677T) still didn’t know what it meant. She didn’t seem to be concerned about it and didn’t go into any detail about it. I was diagnosed with MS in 1993, Hypertrophy Cardiomyopathy in 2012, have osteoarthritis, mitral, tricuspid and aortic valve problems, pituitary tumor diag,1991, osteoporosis and some other issues. Info on Marfans Syndrome & Ehlers Danlos have been brought up by one Dr I saw a few years back,. Soooo what if you have genetic mutations, what can you do about it? I’ve been recently researching some of my family history on my fathers side and have found that I had an aunt that was schizophrenic (this explains a lot with her and some of my other family members!). My father died at age 44 of a severe stroke, (1971). My brother has had 6 heart attacks and 3 strokes. He’s still alive and does for himself. I could go on & on but mostly I would like to know what now? Would I benefit from further testing. When I was diagnosed with MS my spinal tap and the other test did not show that I had it, it was the Brain MRI that showed it, though that was not explained to me at the time. It was years later by another I use a walker, but I believe it’s more from the fact I tore my ACL in my right knee (did not know when it happened). Have had “loose ” ligaments for years. The Dr that did the knee surgery didn’t fix the ACL only the medial meniscus. He said because of my age (54 at that time) and I wasn’t involved in sports I could live without it, I have not kept up with my exercises and I feel that if I did I MIGHT get where I don’t need the walker, really just don’t know if it will ever be 100% again. I’m sorry, I told you I could go on & on. To get back to the Dr that that tested me for the MTHFR, she also tested my EPA & DHA, I just about didn’t have any, I was taking them but not enough,also Vit D only had 46%. I have REALLY researched things over the years but I would get discouraged and just wonder was I wasting my money or was it helping as I said earlier that’s what led me to her.If you could give me some insight/suggestions that would be awesome! Thanks
Hello,
I have started IV treatments for a B-12 deficiency (amongst others) that I have. I have many digestive issues and have tested positive for the 1298AC MTHFR mutation. Unfortunately, my first treatment made me very ill and my stomach is burning a full day later. I was doubled over in pain last night. Is this common? Can I ask my Doctor to do anything to help me tolerate the IV? Will this get better?
Thanks!
My 11 week old daughter has tongue and lip tie. Does this mean she will have a higher chance of one of the illnesses above associated with the gene? Does my future children have a higher chance as well? Are these illnesses that show up early in life or are the something I may get if I have the mutated gene?
Has anyone done any research to determine whether this mutation is found in people with Benign Essential Blepharospasm and Benign Essential Blepharospasm with Apraxia of Lid Opening?
I have hashi’s, low progestetone and low adrenals. Just wondering what the first step to finding out if I have mthfr. Should I first see if I have high b12? My sister has had 2 miscarriages, 1 healthy child and a 7 week old who died from trisomy 18. I’m wondering if her issues could be mthfr. Does everyone with mthfr have high b12?
When I look at the list of illnesses and the damage above, the only thing coming to my mind is ‘internal ionization radiation injuries’ RADIATION EXPOSURE breakage of chromosones translocation…
Good Evening Dr. Lynch,
I just found out I have a MTHFR mutation, but was not told to what extent. All my Head Ache specialist told me was that my Homocysteine Serum levels were normal, and that my body has the ability to produce serotonin but doesn’t do anything with it. I also have low Vitamin D, Vitamin B12, B2, Calcium, Magnesium, and Electrolytes. My body does not seem to maintain them. I am being treated for chronic migraine with aura, chronic tension migraine, major recurrent depression, anxiety, fibromyalgia and I believe IBS. My headache specialist made it seem like it wasn’t a big deal and told me to buy some more vitamins and didn’t even tell me what type of mutation I have. I plan on making an appointment and talking to her in person.
So my next concern is my children. My 3 year old was recently diagnosed with Epilepsy and is taking Keppra at .8 mg twice a day. Since she has been on the medication she hasn’t had any seizures that we know of, but should we have her tested for MTHFR?
My 10 year old daughter also had migraines. Not at a high rate, but has had them for about 5 years now. She feels sick when she gets them and eventually vomits then falls asleep. And then there is my 16 year old son. He also gets migraines and has stomach aches all the time. I guess I am asking if all of them should be tested?
What about my siblings and parents? I know my Dad has been told he has Periphial Nueropathy, but no medication has been working for him. His feet and legs feel like they are burning all the time, but he is not diabetic. Some days he can’t even get out of bed, because of the pain. And my Mom has depression and migraines as well as some type of uterine dysplasia and had a hysterectomy at the age of 32. Is this all related to the MTHFR mutation? Anyways, I am so confused and have lots of questions, but still haven’t gotten all the info from my doctor.
Thank you for listening and for this website!
Dr. Lynch,
My son has a host of problems, his biggest DX are Ehlers Danlos, and POTS. We recently learned he has the MTHFR c677t and only one copy. I was curious on the genetic link of passing it from parens to child worked. Since he has 1 copy does that mean I/ my husband have only one copy or could one of us have 2 copies?I know we should be tested also, mostly me as I have the Ehlers Danlos too. Also, doyou see a connect with having the MTHFR mutation and Ehlers Danlos? It seems a lot of us(EDS’ers) have his mutation.
Tracey,
There are several genetic possibilities for why you have a heterozygous (1 copy) C677T child. You or your husband could be homozygous (2 copies), but not both of you. One of you could be homozygous and the other heterozygous. Or both of you could be heterozygous.
in my case I have 1298 and my son has a copy of 1298 and 677 what would that mean my husband would most likely have?
Hi there,
I have asthma, irritible bowel disease, lichen sclerosus, tested positive for ankylosing spondylosis, hypercholesterolaemia and I have had superficial thrombophlebitis. Do you think this is all related? And if so, what is wrong with me? I feel like my body hates me…
Your asthma, irritable bowel disease, and ankylosing spondylosis could all be related to gluten intolerance.
Dr. Lynch,
I have had a few of my doctors make reference to your work. I test estrogen metabolites and just wanted to comment that when I see low methylation of estrogens (2-OH –> 2-Methoxy) people commonly comment that they have these SNPs. We have a unique type of test that has people test four times throughout the day using dried urine collections. We test individual samples for free cortisol (which parallels salivary free cortisol) and then test a weighted average of the four to give a 24-hour equivalent for all the metabolites (including estrogen). The estrogen methylation piece has been interesting. There is a fairly profound pattern that I am seeing with cortisol that involves epinephrine formation that I’d love to run by you to see how this may play into the neurotransmitter piece. Let me know if you have a few minutes to chat about it. I’d love to get your take on it. Thanks,
Mark (President, Precision Analytical)
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.
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
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.
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
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.
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
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 😉
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.
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.
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.
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.
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.
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?
This is NOT a complete list – by any means.
I had asked Dr. Ben about the hypothyroidism connection previously. This was his reply to me at http://mthfr.net/mthfr-a1298c-mutation-some-information-on-a1298c-mthfr-mutations/2011/11/30/:
“MTHFR is related to thyroid disorders because of BH4.
Methylfolate is needed to produce biopterin which is needed to convert tyrosine into active neurotransmitters and thyroid hormones.
This is the connection.”
Have you looked at FSHD (www.fshsociety.org) as also having a link to mthfr? Thanks, Maureen
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?
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.
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.
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?
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.
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.
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.
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?
What about a connection between MTHFR mutation and low cortisol?
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?
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!
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.,
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-
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.
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?
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.”
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.
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
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.
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!
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.
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
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
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!
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.
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?
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?
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.
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.
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?
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/
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
Toni –
Order the 23andme test and disregard that.
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.
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!
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.
Thank you for sharing!
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?
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
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).
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
Bactrim definitely could’ve triggered it.
MTHFR 677 is also pretty significant.
Please find a doc here – there are more adding to this each week:
http://seekinghealth.org/physician-directory/
Correction – I tested positive for MTHFR677 T/T
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?
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
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.
Thank you – will correct!
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.
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
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/
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?
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.
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?
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/
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!
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
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.
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!
Hi,
I was recently diagnosed with MTHFR, is there a link between MTHFR and thyroid disorders? hypo/hyper?
Thanks
yep
http://mthfr.net/mthfr-and-thyroid-disorders/2013/07/18/
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.
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.
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.
Dr. Ben, are you aware of any connection between MTHFR C677T +/+ and Dercum’s Disease (Adipose Delorosa)
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!!
Jean, an A1298C SNP could definitely be associated with Raynaud’s. see:
Hello,
Is panic disorder or major depressive disorder associated with MTHFR defects?
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!
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.
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?
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
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?
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
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.
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).
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?
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.
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.
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.
Would you update the list to include lip-tie, please? Thanks for all you do Dr. Ben!!
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.
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.
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
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.
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?
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!
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,
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.
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.
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.
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 .
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.
Have you seen anything to suggest possible relationship to osteogenesis imperfecta?
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
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.
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.
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!
Is there an association with MTHFR and Gastroparesis, especially C677T?
Thank you.
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
I have the MTHFR mutation and ALS Amyotrophic Lateral Sclerosis
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)
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.
Interested to hear about the link between low breastmilk supply & mthfr, if you have any information?
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
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.
I have been diagnosed with MTHFR C677T HOMOZYGOUS. I was wondering if it can be linked to Cystic Fibrosis?
No, MTHFR and cystic fibrosis are two separate conditions caused by two different genes.
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
Hi Heather –
Please read this – it’s the same recommendations here for you as is for anyone with MTHFR.
Do note that everyone is different and needs different things to do/avoid/take.
These are just generic thoughts that I know work for many.
Please read this:
http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/
Note that I have the same MTHFR mutation you do 😉
Dr Lynch I wanted to know if the MTHFR test picks up ‘hereditary fructose intolerance (HFI) & what would those results show on Paper like codes or numbers/names? thank you so much Aidan Walsh
https://www.snpedia.com/index.php/Hereditary_fructosuria
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.
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?
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?
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.
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.
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!
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!
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.
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)
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???
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.
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.
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.
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
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.
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!
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
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.
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
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.
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.
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
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/
Thank you so much for your reply Doctor. 🙂
-Emily
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.
I see hashimotos is not on your list but most people I know with hashis have a MTHFR mutation.