MTHFR Mutation

Posted by doriejean @doriejean, Feb 3, 2023

I was born with MTHFR Mutation. I've had all the symptoms of this mutation all my 82 years of life including mental illnesses.
I now have a Southern Illinois Medical School professor who understands this disease and has ease the symptoms that have plagued me all my life.

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

Becky, Volunteer Mentor | @becsbuddy | Apr 17, 2025

In reply to @lulu5174 "Mthfr runs all in our family on both sides, and I was wondering if you can..." + (show)

@lulu5174 I don’t know. Have you sent a message, thru the portal, to ask your doctor? They are the best ones to know and they can handle any problems that show up, later.

zepi234 | @zepi234 | Apr 18, 2025

Hi,
Relieved to be in contact for the first time with other people with this enzyme issue MTHFR.
Simple cure for me , I take a dietary supplement made by
Compound Labs in Auckland New Zealand called L-Methionine and I take 1500mg which most take as their dose per day.It can be sourced from food like chicken, tuna, salmon etc but I would never get enough to do the job.I feel normal now and any so-called mental health symptoms vanished as soon as I took it.I also take B6 and zinc due to found deficiencies via blood tests.All of this prescribed by Dr David Codyre, you can find him in Google search.

moylandavis | @moylandavis | Apr 19, 2025

In reply to @zepi234 "Hi, Relieved to be in contact for the first time with other people with this enzyme..." + (show)

Be careful with B6…if you feel any numbness in your fingers or toes, it may be the B6…I can cause neuropathy and may cause permanent damage…

covidstinks2023 | @covidstinks2023 | Apr 20, 2025

In reply to @moylandavis "Be careful with B6…if you feel any numbness in your fingers or toes, it may be..." + (show)

Hey There! I have the Gene Mutation Issue Absorption with Methyl Folates as well. I have to
get a B12 injection weekly. Even though my B12 number is high you expel what you
do not use. My peripheral neuropathy symptoms went away after going on the weekly B12 injection. I am most grateful!

Thank you for bringing this to the table. An Integrative Medicine Doctor diagnosed me 2 years ago with it.

Blessings & Prayers....

violetmoon | @violetmoon | May 18, 2025

In reply to @mimmi "@mitchgord, you are absolutely correct! My daughter is a homozygous c677t sufferer and so is my..." + (show)

@mimmi

@mitchgord, you are absolutely correct! My daughter is a homozygous c677t sufferer and so is my grandson. There is a lot that is not understood about the MTHFR gene mutations and there is a lot of incorrect information out there. The advice seems to be that it is not necessary to test for the MTHFR gene at all as the treatment plan would be the same... and then the advice is to test for homocysteine in blood and to fill up on B vitamins if the homocysteine is high. The problem with this is that the people giving this advice do not seem to fully understand the job of MTHFR and how methylation actually works. If you for example have two defective copies of the C677T mutation (which you will only know if you do in fact do the gene test), then your body struggles with methylation, meaning it cannot properly use the B vitamins. Taking the synthetic folic acid, that is not only in supplements, but also widely added to fortified foods like bread flour and breakfast cereals, cannot be used by the already broken methylation system of the homozygous c677t sufferer and as you say, it makes things even worse as it interferes with the little bit of folate your body may still be able to metabolize... But this folic acid will be picked up in blood tests before being discarded by the kidneys, so the patient looks like they are not B9 deficient at all, while in actual fact, they are. B12 is another such vitamin. B6 is even worse, because even though it is water soluble and should be leaving the body via the kidneys, it actually takes a long time to do so and therefore tends to build up in the blood... to toxic levels which causes all sorts of nasty, nasty symptoms. There are actually B vitamins that can be prescribed, that are easier for MTHFR sufferers to absorb and metabolize, but they are not the ones being prescribed! Also, these synthetic B vitamins can potentially mask what is going on with the homocysteine levels, leading to misdiagnosis. And if the methylation system of the body is broken, it leads to all sorts of issues, issues that are prevalent in modern life, not well understood and for which so many patients are being gaslit, told the pain and fatigue is imagined, in their heads etc. A very recent study at Tulane University in Florida has shown that there is a strong link between the MTHFR gene and hypermobile Ehlers-Danlos Syndrome (hEDS). It would explain so many of the symptoms of EDS patience, the pain, the chronic fatigue, collagen issues, bone issues, IBS etc, etc, etc. Another recent study has found that ME patients, though they had normal blood homocysteine levels, all had elevated homocysteine in their spinal fluid! I believe that there is a huge under reporting of the MTHFR gene polymorphism and GPs have no idea of what to look for and what the results mean. I think if this part of medicine was better understood, we would find answers to many of our unexplained modern-day illnesses. Living with chronic pain and fatigue and all the other symptoms, is soul destroying….

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Yes it is soul destroying. I have all these symptoms you described and have been trying to figure out what is wrong for years. I had the genetic test and found out I have the mutation but was told it’s not a big deal. After reading this a light bulb came on! So thank you! Do you know what type of vitamins to take the B vitamins that can be absorbed?

sharby | @sharby | Jun 4, 2025

I have mthfr 2 mutations, factorV 1 mutation, endometriosis and we had to cut one of my fallopian. I am diagnosed with fibromyalgia and bipolar type 2 (for which i take lamotrigine and Wellbutrin (obviously my sex life is deemed non-existent).
The environment i was brought up in and the traumas i endured throughout the last 30years did not help.
I live in Dubai and i couldn't find any doctor that can help.

lkirnbauer | @lkirnbauer | Jun 5, 2025

I found out recently due to my daughter having this mutation, that I also have it. I was diagnosed with Hashimoto’s and Hypothyroidism about 2 years ago and take Synthroid to manage the Hypothyroidism. Is there anything else I should be testing for? New to this, thanks!

vostie | @vostie | Jun 5, 2025

It can cause high homocysteine...hubby takes a small dose of methylfolate every day to keep the homocysteine at a normal rate as it can damage blood vessels.

lkirnbauer | @lkirnbauer | Jun 6, 2025

I also was recently diagnosed with this mutation. May I ask what your symptoms are? I never even knew I had it until my daughter got tested and she has it and then she asked me to be tested and I have it!

hopefuture | @hopefuture | Jun 7, 2025

In reply to @lkirnbauer "I found out recently due to my daughter having this mutation, that I also have it...." + (show)

Hay
When I first found out my mthfr0677TT, 70 percent inability to absorb folic acid, I learned a lot from the book Dirty Genes. I now read medical articles and research to see what role the gene mutation has contributed to all my other medical issues. They all are interconnect. Usually people take methylfolate and methylcobaline typo spelling and B6. B vitamins are water soluble, however b6 you can become toxic on. It’s in everything sport drinks, good, Rx , complex supplements, even in magnesium. Thus is what I get tested for : B12 and Homosyteine, and MMA( methalomonic acid) , folate serum, and B6. With the 0677TT your folate and b12 only show what is in your blood stream. Since the mutation is about your inability to absorb, you need to test homosystein levels and MMA to gain better accuracy of how much you are absorbing. Everyone ideal levels are different. Usually people with MtHFR double copy it’s noted that homocysteine levels stay around 7. When mine go to 14 I know I’m deficient in my folate and b12. It’s been tricky for me to fine my right dosing and blood levels. Most doctors are clueless about reading levels in mthfr. I have neuropathy bc I was told my b12 levels were fine. Now I understand why they were actually very low. MtHFR can indirectly effect thyroid as well. when my folate and b12 get out of balance, my thyroid acts up more toward hypo. Now I’m looking into autoimmune thyroid issue. MtHFR has also contributed to my iron deficiency and low platelets and low Ferritin. I get iron infusions and so I also have to get those labs tested. . Be mindful of all medications and OTC that deplete folate and b12. I have to look up everything before taking. Stay away from FOLIC ACID. 0677Tt can not absorb it causing it to float around in your blood stream unused causing more issues. Read labels on foods drinks, otc to avoid folic acid. Only take methyl folate formula. FYI: its helpful to type in my gene mutation and ask google for research articles effecting each medical issue I’m having. Very insightful and helpful to show my doctors. Best wishes.
We all have good and bad genes. Genes get turn on and off according to so many factors we are exposed to. Supplementing manages the MtHFR gene. But many factors can throw it out of wack. Stress, surgeries, medications, lifestyle, diet. Etc. Hope some of this helps.
The Dirty Gene book was helpful to see what to test for and more. Easy reading.
Blessing to you

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