Is there hope for MTFHR polymorphs?

Is there hope for Methylene Tetrahydrofolate Reductase Enzyme Deficiency or in short known as MTFHR polymorphs?

These conditions are associated with MTHFR genetic mutation in research: Several can be considered a genetic disorder since treating the mutation will resolve the illness. There continues to be correlations of health problems with MTHFR that are not mentioned here.

Atrial Fibrillation ALS
Alzheimers Anemia
Anxiety Arthritis
Autism Bipolar disorder
Blood clot Breast Cancer
Chronic Fatigue Syndrome Colorectal Cancer
Connective Tissue Disease Diabetes
Down Syndrome DVT
Epstein Barr Virus Fibromyalgia
Gluten intolerence Heart attack
Heart Murmurs Heavy metal toxicity
Hemolytic anemia High homocysteine
Homocystinuria Hunnington’s
Infertility in both men and women Insulin resistant diabetes
Leukemia Lupus
Meniere’s Disease Migraine
Miscarriages MMA
Multiple Chemical Sensitivity Multiple Sclerosis
Myalgic encephalomyelitis Neural tube defects
Neuralgia Non Hodgkin Lymphoma
Panic Attacks Parkinson’s
Post eclampsia Pre eclampsia
Pulmonary Embolism Retinal Vascular Occlusive Disease
Schizophrenia Spina bifida
Stroke Thyroid disease
Tongue Tie Vaccine Injury

What is gene mutation, MTHFR (methylenetetrahydrofolate reductase)?

Explanations for MTHFR can get very complex so let’s try to keep it simple.

The –ase in the name tells us that it is an enzyme.  This enzyme is at the center of the activity of so much of your biochemistry, from turning homocysteine into methionine, making the most important antioxidant in your body, glutathione and converting neurotransmitters like dopamine that will affect your mood.  The enzyme also makes the active form of folate, called methylfolate.  The active form of folate is able to get around the body better and is the only form that is absorbed in the gut properly and can adequately be used in the brain.  As you can see, being able to make methyl-folate is very important for nervous system function, growing babies and much, much more.

The two little sections that code for the enzyme are known as MTHFR C677T and MTHFR A1298C.  If we remember back to biology class, there are two letters that determine outcome of a particular trait in the Punnett square.  Capital letters general indicate the wild type or normal variant of a gene.  Little letters indicate a mutation.  Two of the same letters indication homozygous and one of each indicates heterozygous.

AA Homozygous

Aa  Heterzygous

aa  Homozygous

The MTHFR section of the chromosome in a gene test with normal variants of amino acids should looks like this:

C677C   A1298A

It is possible to have 1 or 2 gene mutations between these 4 amino acids.  We will use DNA below.  Some tests done by saliva use RNA so the amino acids are different.

One gene mutations or Heterozygous MTHFR:

677: CT   1298: AA   This is heterozygous 677.

(One cytosine amino acid has been changed to tyrosine and reduces the ability to make the enzyme by 30%.)

677: CC  1298: AC  This is heterozygous 1298.

(One adenosine amino acid has been changed out for a cytosine reducing the enzyme being made by 30%.)

Two gene mutations or Homozygous MTHFR:

677: TT   1298: AA   This is homozygous 677.

(Both cytosine amino acids have been changed to tyrosine which means this is only 30% chance or so of making the correct coding for making the enzyme.)

677: CC   1298: CC   This is homozygous 1298.

(Both adenosine amino acids have been changed to cytosine which means this is only 30% chance or so of making the correct coding for making the enzyme.)

677: CT   1298: AC   This is compound heterozygous.

(One cytosine has been switched and one adenosine has been switched in each gene.)

What does it mean?

Simply, this genetic mutation decreases the ability for your biochemistry wheels to spin.  Throughout our bodies we have ferris wheels that are used to turn one molecule into another.  The enzyme is like the worker who loads the ferris wheel.  Without adequate enzymes the ferris wheel doesn’t turn or gets clogged up and you can end up with a crowd of people in one section of the ferris wheel or a crowd of metabolites who cannot go the next step.  This crowd of metabolites can cause symptoms- a myriad of symptoms that are endless.

MTHFR is at the center of your biochemistry wheels and interact in so many wheels.  If you are positive for a MTHFR mutation or polymorphism, it means that your body has less enzyme to help those biochemistry wheels turn and less active folate or methylfolate being made.  If you are not able make active folate, it can clog up the gears causing many of the common symptoms of MTHFR.

MTHFR disorders are treatable.  I find 80% of patients improve immediately with the right treatment.  MTHFR is one of the most satisfying conditions that I treat because patients get so well when their treatment is focused.  There are a number of other mutations, such as COMT, CBS, MAO that can complicate treatment.  Some patients are so sick that we have to address other health problems before they are able to tolerate treatment.

How is it treated?

Many people believe only homozygous MTHFR needs to be treated.  I beg to differ and find that even heterozygous MTHFR will find that their health problems can be resolved by treating MTHFR.  Treatment of MTFHR is often very hopeful.

In general, treatment is nutritional.  The goal is to work toward lifestyle changes and a maintenance dose of a multi-vitamin with methyl-folate in it and avoidance of synthetic forms of folate.  It can take some stepping stones to get to the maintenance dose as we tweak your body’s ability to spin biochemistry wheels and make the gears more efficient.  We want to spin them at the right speed, not too slow and not too fast causing detox.  Some patients see immediate life changing results while others see results consistently but more slowly especially if things have been going on for a very long time.

Any medications that involve folate pathways are generally contraindicated with a decrease in your enzyme.

Who should be screened?

If there is a family history of MTHFR or methylation defects in your family, you should be screened.  It is estimated that over 40% of the population has this particular mutation depending on ethnicity, therefore it is wise to screen for it whenever there is chronic disease, infertility, or in pregnancy.  Proper detoxing is important in all chronic disease and prevention of chronic disease.  Growing a baby involves adequate active folic acid so screening in pregnancy MTHFR is essential as is taking the methylated form of vitamins.

There is a very long list of chronic diseases that are linked to MTHFR but in short, I often screen for it in my La Mesa Naturopathic Medical Clinic if there is some family history of heart disease, cancer, diabetes, any clots, depression and/or addiction.  I also screen in more unusual conditions such as sensitivity to caffeine, a feeling of something creeping up such as a panic attack, estrogen dominance such as fibroids and autoimmune conditions.  In the first patient visit, we are creating a painting of the person’s well being and if the picture fits MTHFR, a screening is well worth it.

Screening can be done in our La Mesa Naturopathic Medical Clinic by blood test. There are kits offered online for blood and saliva testing.  I do counsel patients on the best option for them depending on their finances, health goals and concern for genetic testing and data mining of the information.


  1. I was diagnosed with Meniere’s disease about 5 years ago. The Meniere’s has progressed very rapidly during the past year. I was having vertigo every other day. During this year I have had many treatments; including intratympanic steroids injections and even acupuncture. During my search for a treatment which would allow me to have my life back, I had developed High Blood Pressure, heart arrhythmia, high cholesterol, and an inflamed thyroid. Most recently it was discovered that I have MHTFR mutation c677t and a1298c. I am being treated with Metanx, selenium, and 81 mg baby aspirin daily in addition to all the medication I take for all the other ailments I have developed. I am hoping this treatment will put my body systems back to normal and add in stabilizing the MD. Has anyone had any relief from MD using the treatment for MHTFR mutation c677t and a1298c?
    Any suggestions are welcomed.
    : )

  2. Thanks so much for the information on the MTHFR gene mutation. I am so new to this information and find it a bit confusing. I was recently screened for the C677T and A1298C allele mutation. The results stated one copy for the former and two for the latter. How then is this defined i.e., compound heterozygous or heterozygous/homozygous? It still baffles me.

    Also, I have had four normal, healthy babies. I became sick after the fourth and have dealt with energy issues etc for nearly 20 years. Now my kids (all grown) face their own health issues as well. My labs suggested genetic counseling. Is this something I should do considering I am over 50? Or, should I just continue studying the issue on my own and tweak my vitamin regimen as newer information becomes available?

  3. Kim Newcomer says

    I’m one of Dr. Fowl patient with this MTHFR condition – homozygous. I regained energy & vitality almost immediately after following Dr. Fowl’s treatment. I was being treated for another condition, and Dr. Fowl incorporated treatment for MTHFR as well. She provides a complete solution. I’m grateful to be under her direction. My mom passed away from a Parkinson’s-like condition. Wish she had been treated by Dr. Fowl.

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  7. My test came back positive for MTHFR 1298A>C AC. What is your recommendation?

    • Dr. Shannyn says

      Hi Greg, thanks for the comment! We recommend setting up a consultation at our office, either in person or over Skype, to learn more about your unique case.

  8. I just got diagnosed with a mutation of the MTHFR gene I believe just one. A1298C A/C my internist put me on PoDiaPN and I have been on two doses a day for 7 days. I really hope it works. I am 36 yrs old and I feel heavy brain fog, weak, tired, achy, depressed and anxious all of the time. I want to feel normal again.

    • Dr. Shannyn says

      Hi Leah. It sounds like you’ve been experiencing some challenging symptoms. Please feel free to contact our office to learn more or to set up a free consultation with Dr. Shannyn.

  9. Alice Courtney says

    I recently had my DNA tested and found that I have C677T/A1298C mutations, with the mutation result listed as homozygous/wild type. The doctor who had the test done has put me on 1000mcg of folic acid/day, but, in light of what I have read so far, this seems to be a mistake. One site suggested methylfolate, methylcobalain, with the product names being Metafolin and Extrafolate-5. I am 68 years old and have atypical facial pain (originally diagnosed as Trigeminal neuralgia), chronic depression (low end bipolar disorder), muscle spasms, osteoarthritis, and I have had 3 stents put into my heart. I have neuropathy and am very close to having type 2 diabetes. What program of supplements would you recommend for me? One of my sisters had CRPS and the other has Lupus. My ANA is positive, but all other autoimmune tests have been negative so far. Is there hope for me?

    • Dr. Shannyn says

      Hi Alice,

      There is indeed hope for you. I see patient recover and thrive everyday in my office despite having MTHFR.

      If you have once abnormal gene mutation in each 677 and 1298 then you are heterozygous for both. Sometimes people call this a compound mutation since you have one in both. Synthetic forms of folate do not help people with MTHFR defects and often makes them worse. What to start on depends alot on you and your body’s history. Pain, mood, arthritis, muscle pain and nerve problems can all be related to MTHFR and the challenge it makes to detox. Autoimmune can develop after awhile of being too toxic but doesn’t have to. I encourage you to seek a local doc who has some success with MTHFR treatment or we can set up a consult to see how we might be able to help you find some answers.

      Dr. Shannyn

    • Dear Alice,
      when i’m in a depression I scour the websites trying to find new information. Our ages are the same, we both have panic attacks we both have depressions. I have neuropathy I am on Deplin and for a while there it helped the depression and made me feel like a normal person but the depression is back. I soothed my soul a bit seeing you were there and would understand my state. We’re the same age & have basically the same symptoms. The problem with Mthfr treatments is that they have side effects & MRHFR patients are highly sensitive to chemicals. A catch 22 if there ever was one. If you’ve discovered ANYTHING that can us, please let me know. I’ll Soooooooo appreciate

      • Dr. Shannyn says

        Hello Pat,

        There is hope and treatment for MTHFR patients. It can seem overwhelming when you have side effects from the very things that are supposed to make you feel better. You don’t have to have side effects. We just have to slowly tweak your treatment plan as those wheels get used to spinning again. Some bodies need patient doctors who know how to work slowly to get results over time. I work as hard as my patients and it is rare that my MTHFR patients do NOT get better. Please do contact my office if you are looking for answers.

        Dr Shannyn

  10. I was diagnosed through blood tests as having a DOUBLE 1298c gene mutation. I need a dr who has expertise in this mutation. My past dr does not know enough about this mutation or proper treatments.

    My symptoms include:
    -Chronic Fatigue/Fibromyalgia (have chronic fatigue and pain pressure points all over body that are getting worse). Fatigue particularly in the morning and extremely difficult to get out of bed and getting worse over the years. A lot of pain when getting out of bed in am.
    -Miscarriage (last year at 3 months into pregnancy)
    -Infertility (was off birth control for 3-4 years until I got pregnant and then had a miscarriage)
    -Very sensitive to vaccines
    -High anxiety
    -Panic Attacks
    -Tongue Tie (some stuttering)
    -Circulation problems (a lot of spider veins)
    -Food sensitivity
    -Toxin sensitivity
    -Chronic constipation
    -Brain fog
    -Mood swings
    -Past Hormonal issues

    • Dr. Shannyn says

      Hi Amber,

      It is not uncommon to find that doctors do not know much about MTHFR, in fact some docs won’t even run the lab because they feel it will not influence their treatment or is even relevant. The understanding is that MTHFR has to do with the heart and that cardiologists would run the test most often, however a survey of over 400 doctors found that neurologists and family doctors ran the genetic test most often. That tells us that it can also affect the nervous system quite a bit including sensitivity, dizziness, migraines, etc.

      I know you can find some answers by addressing your biochemistry wheels more specifically. I have seen patients with all the things listed above. I find it particularly interesting that we can almost always resolve panic attacks or the other sensations that get stuck in the category fairly quickly. Most MTHFR patients have belly complaints too. I have several patients who have been treated for MTHFR who were infertile and with treatment, they are able to carry a pregnancy to term. Not always but I always look for MTHFR in infertility cases. Pain and fatigue are all part of toxicity which MTHFR can make difficult to prevent until the wheels are spinning as best they can.

      Our office is happy to talk with you to see if we are a good fit for each other to help you find answers to your health problems.

      Dr. Shannyn

  11. I was diagnosed in 2012 with 677 TT and 1298 AA I was put om Deplin 20 mg and then on a more natural 5-methyl…..that now included B 12 5000 mcg. I am not sure I understand why I was given such a large dose of B 12 because my metabolic panel came back with my B 12 at 505 and my RBC Folate at 978. I still have the same issues I have always had but since I started following the plan from my doctor I have bad sores/acne along my jawline and down my neck and my skin all over my body, especially my face, is just all of the sudden droopy almost saggy….it seems my muscle tissue is depleting. I am 37 now but I have always been a healthy individual when it come to exercise and diet ( I am a vegetarian and have been for 14 years). Could all this be caused from too much B 12 not being able to exit my body?

    • Dr. Shannyn says

      Hi Melissa,

      This is not an uncommon story I hear in my office. Many patients will go years without problems then something shakes them to the core like an illness or an emotional experience and it is hard to get back into balance. MTHFR has a lot to do with detox and can prevent you from getting back in balance. It is not uncommon for patients to get some skin issues or muscle issues with methyl folate and b12. It can be too much. Each patient is different and we have to support their systems while we get their biochemistry wheels spinning properly. My office is happy to talk to you about how following up for care might work for you.

      Dr Shannyn

  12. Is there any special diet that can help, I have been diagnosed with MTHFR Polymorphism.
    I don’t have enough energy to take care of myself anymore. So, any hints on how to build energy would be appreciated. And don’t tell me to exercise, I can hardly get out of bed! Thank you.

    • Dr. Shannyn says

      Yes. Exercising can take all your energy. It is important to leave 30% of your energy for healing. It does take energy to heal.

      As far as ideas for energy, it depends on the person as to what is going to work. Energy is a common problem with patients who are newly diagnosed with MTHFR but everyone is different and unique. Feel free to call for a free 10 minute appointment to see how we can get started.

  13. Stacy Arient says

    I have just been tested positive for the c677t mutation and i have gastroparesis. Of your list i have quit a bit of issues on them. mono, migraines, anemia. I have just been put on reglan for the GP and will be taking metnx for the mthfr. Do u have suggestions for patients with GP and this mutation as well. Food is my enemy right now and hard to eat the good healthy stuff since it fights my tummy. Any help and advice would be great.
    Also I have a family of breast cancer and Alzheimer, should I be worried and what should I do about it. cousins on dads side has breast cancer and dads mom and her mom had Alzheimer.

    • Dr. Shannyn says

      to me
      It is not uncommon for MTHFR patients to have problems with food as a complication from thoseethylation wheels not working optimally over time. A food intolerance panel can be very helpful in taking the mystery out of food issues while healing the rest of the body and getting those wheels spinning.

      Hi Stacey,

      It is uncommon to have gastroparesis but I have seen a few and it does take time to heal but it is possible. When treating MTHFR adequately, you can lower your risk factors for developing family history problems.

      Your best options for you as an individual will be to find a doctor who can treat you step by step as you deal with healing from years of illness. Be well.

  14. Dears,

    i am 34 years and have been diagnosed as Factor v homo and MTHFR hetro.
    i do not have any symptoms and did not discover the issue only after my first miscarriage.

    the Hematologist said that i have to take Heparin(Lovenox 40mg) twice daily during pregnancy.

    i miscarried 5 times , all miscarriages happen on week 5 !!!knowing that i was taking Lovenox as Dr has prescribed.

    Please advise and assist if possible.


    • Dr. Shannyn says

      Hi Zeina,
      You are not alone. I have heard this story many times. MTHFR patients come to me for treatment and get better. And while I do not really plan on treating infertility, they come back because they want some help getting pregnant and keeping a pregnancy. It has been awhile since you comment but if you are still looking for guidance, please do contact my office for a 10 minute consult to see if we can work together.

  15. Van Dees says


    I am in South Africa and the following were diagnosed in my blood:

    MTHFR – March 2014

    HETEROZYGOUS 1298AC and WILDTYPE 677CC. The Dr’s continiously diagnosed me with Bi Polar and the last Dr I have seen three months ago is not agreeing with this.However,he is still treating me with anti- depressants and I continiously feel tired,muscle pain,Anxiety ,Arthiritis etc.
    I had a heart attack at the age of 41 and no tests were done for MTHFR.
    It seems like MTHFR is not familiar to some Dr’s in South Africa.
    Perhaps you will be able to assist me with this and or referring me to a Dr. in South Africa.
    I am currently taking 750micrograms Folic Acid (Natural) at night ,and can feel no improvement.

    Your reply will be much appreciated.

    • Dr. Shannyn says

      Hi Van,

      I am sorry you are not finding the help you need. We certainly won’t be able to give you the most effective options over a comment section. You deserve to have your whole picture heard and understood in an office intake and make a plan of action for you. If you cannot find a doctor of help. You can email my office about our Skype options.

  16. Bruce Cullen says

    Please help me wade through all this information. I have just gotten test results indicating I tested positive for c677t and a1298c. I’m a 52 year old male that has been suffering with bipolar, short-term memory loss, addiction issues, degenerative disc disease with chronic nerve pain and damage, and other symptoms that according to other websites may seem to be associated with these genetic markers. My doctor has placed me on Cerefolin NAC. It seems that people taking this experience great results. Is this the right treatment path? What should I expect for my future?

    • Dr. Shannyn says

      Hi Bruce,

      I commonly find many of your problems such as addiction and chronic pain connected to MTHFR. When we get those wheels spinning better, things will improve. Your best option is to find a local doctor to work with who is good at getting to the cause.

  17. Kristine says


    I recently got tested and theese results came back. I don’t understand it all.
    Can anyone explain? I have several health issues, Hashimotos, Celiac, chronic inflammatory gastritis, iron deficiency, fatigue.

    MTFHR Genetic Variation: 677 CC
    MTFHR Genetic Variation: 1298 AC
    MTR genetic Variation: 2756 AG
    MTRR Genetic Variation: 66 GG
    COMT Genetic Variation: 472 AA

    I am thankful for someones help.

    • Dr. Shannyn says

      Hi Kristine,
      Looks like you have a heterozygous mutation in the 1298 variant. The rest of those result depend on your other results, not shown here.
      You are not alone. These results can be confusing and understanding how they relate to your symptoms can be even more confusing. The good news is that I see patients with all the health issues you mentioned: Hashimotos, Celiac, chronic inflammatory gastritis, iron deficiency, fatigue- get better! They recover and led a normal life with the right tools.
      Feel free to call my office and see if you are a candidate for care. It would be lovely for you to be able to find your answers.

    • It’s great to find an expert who can explain things so well

  18. Not sure if anyone else mentioned this in the comments above, but the 4 bases (not amino acids) that make up DNA are adenine (not adenosine), guanine, cytosine and thymine (not tyrosine).

  19. What a great and easy to understand article. I have recently been tested and I am homozygous A1298C as well as having Pyrrole disorder. My doctor put me on a compounded formula of SAMe, methyl B12, Biotin, Magnesium, Maganese, Molybdenum, P5P, Pyridoxine, ascorbic acid, zinc, Vit E. I trialled this but no change, is there a reason I didn’t improve? I have been fighting all of the symptoms for years and really need to get to the bottom of it. He said to stop taking it but I am wondering why I didn’t notice any difference. The doctor seems to think that maybe the mutation is not expressing however I have loads of symptoms – extreme fatigue probably the worst. Thank you

    • Dr. Shannyn says

      Hi Katie,
      We try to make things a bit more simple to understand so I am glad it worked. Pyrrole disorder can be challenging along with 1298 homozygous, however there are some proven treatments that make a big difference for patients. Your list of supplements seems like a lot to start with right off the bat so I can see why you may not have seen immediate response. It can take awhile to spin those wheels properly for one thing but you do have to treat the cause as well or you are unlikely to see results. I agree it does sound like your symptoms are not optimal health. I am happy to do a 10 minute consult with you on the phone to see if we can work together to get you feeling better. Feel free to contact my office so we can help you get to the bottom of that fatigue!
      Thanks for your comment Katie.

  20. I go to see daily some blogs and sites to read articles, however this blog gives quality based writing.

  21. I have the MTHFR and am postive for C677T and A1298C. My integrative doctors found this out. Recently diagnosed with Triple Positive HER2 Invasive Breast Cancer. Surgery for a bilateral mastectomy in 26 days. Wondering about treatment plans. Many tests I’ve read or blogs etc, state that many chemo treatments are toxic to such a gene makeup. Before I even knew this, to my bones, I had this feeling (strongly) to NOT do chemo. My diet changed about 3 months, w/guidance from the Integrative docs, staffed nutritionist. No gluten, no whey-yeast, no dairy and several other items. I’m eating much better, feeling great. Surprised when I got the news regarding my BC. What kind of treatment would be best for someone in my position and genetic makeup for my BC? Any help would be greatly appreciated.

    • Dr. Shannyn says

      Hi Beth,

      There is no clear path or clear answers for this type of question. It must be based on the individual and your case. While genetics can tell the risk factors for developing health issues, complications and efficacy of medications, we have to weight the benefits of the treatment and seriousness of the diesease. I would encourage you to follow up with a local naturopathic doctor or savy integrative doctor in your state who may be able to offer you the best options for you. Good work on your diet! Excellent start. Continue to search for the cause while undergoing treatment so you can prevent recurrence.

      Wishing you wellness, despite the health complications,
      Dr Shannyn

      • Thank you for the reply. I continue to work with my integrative doctors and inform them of the treatment plans that the oncology team would like me to do. Taxol (chemo) and Herceptin for 1 year. Though, I am wondering and hoping I can ask oncology if I could do JUST the Herceptin. Also, going to ask my surgeon if I should have my ovaries removed to help decrease the estrogen. I have no clue if this would help, but I thought I should at least ask. For now, I’m waiting on the surgery to determine my treatment plans. The sentinel node, if clear, I will strongly hold to want to just do Herceptin. Unless I can find another option. In the meantime, I have been seeing a licensed acupuncturist, for pinning and ion foot detox before surgery. Along with dry brushing (for lymphatic system) and some essential oils on the bottoms of my feet. I seem to do better with natural items than chemical. I have sulfa drug allergies, so antibiotics are tricky for me. I know my body well. My worse thing I do is eat chocolate. But my doc says it is better than tequila. (smirk implied) Thank you I will continue on the food regime and the rest and exhaust my other treatment options when the labs are back the day of surgery.

  22. Wow is all I can say, I just did 23andme and then uploaded my raw data to find I am homozygous for C677T of MTHFR. Where do I start, years of pain and suffering and doctors and more doctors, it’s enough to make my head spin. Endometriosis, Fibromyalgia, Myalgic Encephalomyelitis, PCOD, Mgus, miscarriage, CVID, Bladder polyps and IC, Thyroid nodules, low Thyroid, MCS ~ The list goes on and on, its overwhelming at times. I have gotten my hopes up before and had them dashed, I have been sick all of my life and I have little energy left. Is there hope for me?

    • Dr. Shannyn says

      There is hope! MTHFR is only part of the puzzle. Thyroid, miscarriage and endometriosis seem to have some direct correlations to MTHFR and when treated, they seem to improve and even resolve. Fibromylagia and myalgic encephalometlitis are directly connected to infections- chronic and smouldering- usually not something detected by your doctor. These infections love the trash left over from not detoxing properly. Infections are tricky to address since they can get worse if you try to come at them too hard. Thyroid, bladder polyps and IC have connections to food. Sure- you are a complicated individuals but we keep chipping away at what is on top. Let my office know if you need further help.

  23. I tested positive for c677t and was put on Beta B12 sublingual, 5-MTHF, Pyrodoxial 5 Phosphate. I was into my treatment about a month and was continuing to be nauseated and throwing up after taking medications. I saw my Doctor and no changes were made, symptoms persisted. A month later, I was admitted into the hospital for severe dehydration, swollen colon and C-Diff. I was sent home with a 10 day supply of Vancomyecin to get rid of the C-Diff. The question I have is are the two related? Did the methylation open up or weaken me so much that now I have to deal with this “superbug”? For the record, I am not currently on any Methylation plan while trying to recover from this C-Diff. Any help would be appreciated.

    • Dr. Shannyn says

      Oh my. That is challenging. Yes it is not uncommon for all sorts of bugs to come to the surface when we start methylating or overmethylate. Bugs come along to eat up the trash that has accumulated from not spinning those wheels properly. It important to go at this methylation slowly to avoid stirring things up. I am sorry you didn’t have other options to help prevent that. Do make sure that your belly is clear of infections since further antibiotics will make other infections flourish. The best way to rule this out is by doing a stool panel. If you need a plan for health and methylation, definitely reach out to my office so we can get you feeling well and balanced!

  24. i was recently diagnosed positive for C677T heterozygous mutation. Where do i start to treat this? my dr has prescribe deplin. any info is helpful

    • Dr. Shannyn says

      Treating MTHFR and other mutations really depends on the individual. Many of these patients are sensitive and we need to take that into account. I have a number of patients who were started on deplin a bit too fast. It is a form of folate but not always the best form for everyone to get results. Feel free to call my office and set up an appointment so we can start working toward wellness by finding the best options for you.

  25. I have c677t a1298a what does this mean?

    • Dr. Shannyn says

      This means that you have compound mutation and you have some trouble methylating. Nothing that will keep you from living a healthy and thriving life with some good medical guidance.

  26. Jennifer Jones says

    Greetings from Oklahoma,
    I tested positive about 1 month ago for homo C6677T. This, I believe, explains why I have not been able to recover from 2 years of nerve damage following a shingles outbreak. Also, explains my and my family’s medical history: ME – non-curable ear ache causing dr to test me for AIDS, prolonged staph infection after full hysterectomy, 3rd child born with Down Syndrome when I was 23; 1st child unable to walk after receiving vaccination in leg (ate the muscle; took about 1 yr for healing); epilepsy since 12 yrs old; ice pick stabbing feelings (sudden) at temples, spinal issues / near club foot, thyroid dysfunction, shingles, post-herpatic neuralgia; FAMILY: (dad) heart disease, diabetes, clogged arteries; (mom) spinabifoda, alzhiemers, shingles; (siblings) shingles, lyme disease. I have recently began taking methyl B and methyl folate but too soon for results, I suppose. I am scheduled to see a MTHFR dr at the end of the month hoping for some relief. The nerve pain is endless and the meds (gabapentin / Percocet) give little to no relief. I would like to be off of them as I’ve been taking them for 2 yrs now! I’ve done traditional treatments (meds, thoracic epidural, etc) and non-traditional treatments (acupuncture, TENS unit, chiro, etc ) for relief without success. I have read that the MTHFR can make the gabapentin less effective – and the weight gain is awful (40+ lbs)! My daughter is getting married in Oct and planning to soon start a family. I have advised her to get MTHFR tested. I am very excited for the wedding but cannot even stand to try on mother-of-the-bride attire due to the nerve damage (left side to shoulder blade) – not to mention lack of energy. Although I am excited, I almost feel disinterested – I know I’m not though; possible depression. I am hopeful a new diet (no flour, sugar, gluten, wheat) will also help. Am I on the right track? Any advice?

    • Hi Jennifer,
      That is a lot to be going thru. It is not uncommon for MTHFR patients to have horrendous pain and it can be related to the ability to break things down and get them out of the body. This can also make your body more susceptible to infections- both viral and bacterial. Gabapentin is more likely related to CYPs in your liver. Most patients do better on just methyl-B12 for awhile before starting any types of folate including fortified food but it sounds like you need more inflammatory help as well. It sounds like you are really searching for answers and have found a doctor that might help you. If you don’t find your answers, feel free to seek out my office about becoming a patient even if long distance. Hope your daughter’s wedding goes well. Congrats!

  27. I have,been prescribed PoDiaPN for my mutation. What is your opinion of PoDiaPN? What is it missing in its formula in your opinion. I also take B-activ by Xymogen. Is that overkill on the B’s??

    • Hi Monica,
      PoDiaPN is a tricky product and you need to be following up with your prescribing physician. It is a medical food that can be life threatening if not monitored closely. Usually patients with methylation defects need help with detox so overdoing the vitamin intake may not be in their best interest until the detox pathways are opened properly. I would say the biggest mistake I see in patients who feel poorly when starting treatment for MTHFR is too much too quick. Hopefully you have found a doctor to work with that can appreciated your input of what is going on in your body and incorporate that into treatment options.

  28. Teresa Alcauter says

    My doctor gave me this website, I am happy to see the information provided. I have a double mutated MTHFR C677t and was found when i had a pulmonary embolism a few years ago. Now I suffer from Systemic Lupus and Fybromalagia (although they mimic each other) among other health related issues. My other doctor (rheumotologist) cant seem to control my flare ups. I dont want to take anymore chemo or steriods

    • I hope you are finding your answers Teresa! There a number of tools that can be used for patients who have Lupus and definitely for Fibromylagia. Fortunately some of the tools we have are so effective, many of my fibromylagia patients go on to recovery and leave the pain behind.

  29. I have been having trouble finding an answer to this question:
    Would an MTHFR result of 677 AA be the same as a 677 TT?

    • Dr. Shannyn says

      Hi Virginia,
      In short- yes. Here’s why.
      The letters A and T represent amino acids. The amino acids that are connected to 677 are CC as normal, CT as heterozygous and TT as homozygous. However if you are looking a saliva results, the 677 or rs1801133 does look different since it is RNA that they are looking at, not DNA. Normal 677 in saliva is GG, while GA is AA is homozygous.
      Hope that helps! Hope you are finding your answers to health!
      Let us know if we can help you!

  30. I am heterozygous and am not aware of many problems in the past except for horrible consistent migraines. Ive had them since a teenager and I am 48. In my thirties after a gallbladder removal, they got much worse. A neurologist put me on several vitamin supplements which helped- b12, d3, b complex. This last year I got something like shingles in my mouth and nose-all on one side. It started with tingling in my tongue that got worse over several weeks. The blisters went away on antiviral meds but the tingling hasn’t and I have since been told I have fibromyalgia because the muscle pain continues and the tingling in my tongue. I had these similar symptoms about 15 years ago minus the tingling. Any suggestions??? It’s driving me crazy.

    • Dr. Shannyn says

      It is not uncommon for patients who have MTHFR to have trouble with chronic infections. Let me try to explain why.
      When your methylation wheels are spinning properly, this means you are also eliminating properly. When those methylation wheels are not spinning, you do not detox well and have an accumulation of toxins which allows for infections to thrive. Viruses definitely like to take advantage of this. The biochemistry is bit more complicated than that but hopefully this makes it simpler to understand. Fibromyalgia is also understood to have a viral etiology.

      So as for what to do- find a practitioner who can tackle the infections including the viral issues. Using Acyclovir and similar drugs may help in the beginning but often the viruses become resistant to them and they don’t work after awhile. There is alot of natural tools to help with chronic viral infections.

  31. Dr. Shannyn says

    It is true that folate is important in the wheel for MTHFR, however if the wheel is not spinning adequately, it can make symptoms worse. The first goal in our office is usually to get the wheel adequately spinning first then add in the folate. No one needs more symptoms!


  1. […] can convert it to the folate we need. Most, however, does not mean all. It’s estimated that 30% to 40% of the population can’t efficiently convert synthetic folic acid into […]

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