Compound heterozygous – one C677T and one A1298C

This topic contains 56 replies, has 2 voices, and was last updated by  Dennis Dwyer 1 month ago.

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  • #1137 Reply


    Many of these posts seem to be from people with just one mutation type – what about those with two different kinds?
    Are we doomed to have every problem in the book? How to decide what to treat and where to start?
    I already take buffered Vit. C, Biomulsion D-Forte for D – 10,000 IUS/day, CoQ10 & Mg for heart palpitations,
    a multi-B complex with Metafolin L-5-MTHF, and B-12 injections every 2 weeks. I also take Iodorol when I can tolerate it
    due to living in the rust belt and having thyroid issues.

    I don’t have gut issues, but my holistic MD has me doing a liver cleanse right now, and I can only tolerate taking the powder a few times/week at the half the dose. It has L-Cystine, L-Glutamine, DL-Methionine, L-Lysine, and l-Threonine in it, and I am wondering if that’s why I can’t tolerate much of it. Or if it’s just the icky feeling of detoxing. If you have some insight on this, I would greatly appreciate it.

    #1200 Reply

    Dr Lynch

    Cherub –

    There are MANY reasons why one cannot tolerate detoxing –

    You should not feel ‘icky’ while detoxing – if you are – you are not doing it properly – and you need to reevaluate it and sloow down.

    Detoxing is not a once or twice a year deal. It is a lifelong daily task that we all need to be doing.

    The form of protein powder is also important – must be hypoallergenic.

    This is such a loaded question that this is all I can offer. My book will offer much insight to your question – it is in progress.

    #1207 Reply


    I am also compound heterozygous (C677T and A1298C). I just discovered this last week, after having tests run by a fertility naturopath here in Seattle (a fellow Bastyr grad of yours). I am trying to wrap my head around what this means for me. We have two healthy boys (7 and 9) and my husband and I are/were trying to have a third child. I had a miscarriage last fall at 10 weeks, and the test results came back that my baby boy had trisomy 14. I had a chemical pregnancy this January. The naturopath has put me on all sorts of supplements pertaining to my condition, and has advised us to not try to get pregnant for at least 2 months until she can recheck blood levels. With all the reading I have done in the last week about increased autism and down’s risk with this mutation, and my age (41), I am seriously considering abandoning our idea of expanding our family… I don’t know if even waiting two months would make it less “risky” …. will improving my folate status alone improve my odds of conceiving a healthy child? I am just so worried… Please let me know your thoughts on this. I really wish I could meet you in person since I am in your city :)

    #1359 Reply


    I sympathize with you, Kathy. I have 2 living children, and have had 3 miscarriages. After the last one at age 41, I decided 3 was enough. I didn’t even know as much about MTHFR as I do now. Thankfully, my husband does not have either mutation, so the most my kids can have is one of the two. My eldest has one mutation, but we haven’t tested the other two yet.

    Thank you for your reply, Dr. Ben. I will be looking forward to your book.

    #1360 Reply


    Typo! I have 3 children, and had 3 miscarriages – 7-8 weeks for 2 of them, and 12 weeks for the other.

    #1390 Reply

    Dr Lynch

    Hi Kathy –

    I am glad your naturopath has you on a program – and that they have advised you to wait at least 2 months before you start trying.

    There are so many reasons for miscarriages – and MTHFR is one of them. I understand your concern and you are wise to wonder if you should try again or not – as that thought alone will help you get through the steps you need to get, and stay, pregnant; or, it will help put you at ease knowing that you have 2 healthy children and enjoying them for decades to come.

    Being 41, there are additional risks as you know.

    It is also not just about MTHFR mutations – I wish it was that easy. The issue is, the older we get, the harder it is for us to methylate – and it is methylation that is critical for detoxification, neurotransmitter formation, histamine breakdown, DNA production, and supporting the immune system.

    I recommend sitting down with your partner/husband and truly being honest with each other – and yourselves.

    Do you both want another child? How badly? Adoption an option?

    Are either of you prepared if your 3rd child has some genetic difficulties which may strain your current family life?

    Are you prepared mentally to go though another potential miscarriage?

    These are tough questions and I am sorry to have to put them out there like this but they truly do need to be addressed – as I am sure you are already doing so.

    Taking supplements does not always address the issue. There are lifestyle and dietary changes that likely need to be made along with also addressing the environment around you – chemicals, pesticides, formaldehyde, water quality, etc.

    As many Seattle folks are already eating well, taking additional folate in the form of methylfolate is not likely going to be the ‘magic bullet.’ If you are only taking methylfolate, I highly recommend you consider taking methylcobalamin as well – for numerous reasons.

    I am in Seattle – I hope to organize an event here locally to speak on MTHFR and methylation. I am currently working on it ;)

    I will post on my Facebook page when this occurs – and also here at MTHFR.Net.

    Either decision you choose is the right one – as it is you and your partner’s choice which was carefully chosen through honest discussion!

    Either way – do let me know – and best to you.

    #1793 Reply


    I recently found out that I am compound heterozygous MTHFR and had 4 children. Preeclampsia with the first one, two normal pregnancies and the last one (7 years later) but in my late 20’s the child was born with HLHS ( Hypoplastic left heart syndrome). He died right before the age of five. My husband and I never understood why we had one child with this conditiion. 7 years later (2012) I went to the ER for chestpain, had a very high d-dimer level and went through testing to rule out a blood clot in my lungs. All came out well, but my internal medicine dr tested me for MTHFR and has been treating me with Deplin, asprin, etc. My concern now is that my oldest daughter is about 5-6 months pregnant and we are just now finding out I have this condition. She will be tested this week. Unless her father has the mutation, it sounds like the most she could have is one copy- is that correct? What is the risk level for children of a parent with my condition?

    #1808 Reply

    Dr Lynch

    Sue –

    Glad to hear your daughter is getting tested.

    She needs to get the results to me and we can go from there.

    To be proactive, she may want to start taking Sublingual Active B12 with Methylfolate right now along with CoQ10, Fish Oil, probiotics, good multi, etc

    She should read this article on Prenatal Supplementation with MTHFR

    I don’t recommend more methylfolate than what is in the Active B12 with Methylfolate and the multivitamin – not at this point.

    Cal/Mag is needed also to reduce pre-eclampsia risk.

    #1931 Reply



    Tests back- We are requesting a copy.
    My daughter was tested and came back positive for Compound heterozygous-one C677T and one A1298C. Unfortunately, the OB has not scheduled her for an appointment until next month and she recieved the test results via phone. She has been researching this and is highly concerned about not recieving the appropriate care. She lives in South Texas near Corpus Christi. Do you know of anyone in that area who is an OB that has experience with treatment? We are concerned about the casual approach taken by both the OB and the high risk OB who do not seem to be addressing it. There has only been discussion about putting her on a blood thinner prior to delivery.
    Her due date is late June. We want to get her the right treatment now-we realize that it would have been better to know prior to getting pregnant but also understand she should start with treatment for the remainder of our pregnancy.

    I did not see any physicians in the corpus area- can you recommend one?

    #1934 Reply


    I also just recently found out last week I am compound heterozygous C677T and A1298C. I am 39 and have never had a miscarriage and have had 2 full term, successful, uneventful pregnancies. I did have a hard time getting pregnant though! I just wanted to let those that might be concerned that I think alot of people do have these mutations and still go on to have normal pregnancies and births. I will be having both my children tested and put on the Methylfolate if needed. I have been on it now a week and my fibromylagia pain is already reduced by 1/2 and I can feel a mental clarity that I have not felt in many years, maybe never. I was able to fall asleep last night without the use of Zanaflex for the first time in many,many months. I am also using Methyl B12 with it. I am almost a bit nervous this is too good to be true!! I hope the relief continues because I could really get used to this!!

    #1944 Reply


    Question: how much more risky is it for someone who is compound heterogygous (677 & 1293) to take fertility drugs? Specifically – estradiol, clomiphene citrate, & progesterone? Is the risk of DVT much higher? Homocysteine levels are mid-range, thankfully… Age 42 yrs old, FSH only 7.3! One pregnancy, natural conception at 40 yrs old, but complete spontaneous miscarriage at 16 weeks.

    #1945 Reply

    Lisa C.

    I am a 33 year old woman who has had a history of chest pain, heart palpitations, chemical sensitivity, anxiety/panic, and gastrointestinal issues. I first discovered all of this at age 18 when I was taking oral contraceptives for intense menstrual cramps (cramps lasted upwards of 48 hours causing me to miss school/work). I sought a cardiologist who diagnosed me with mitral valve prolapse and told me to stop taking the pill. I did, but the symptoms persisted for years. I noticed that different types of food triggered chest pain (caffeine, sugar, fat, salt) and I generally stayed away from them. After a few years I introduced some of those things back into my diet and as long as I did so in moderation, the chest pains were tolerable. I tried birth control again in my mid-20s and did not notice any significant increase in chest pains, and actually my GI tract seemed to be calm during this time. After 4 years, my cycle had become irregular, and I decided to go off birth control again in hopes of giving my body a rest. My cycle continued to be irregular for a few years so I decided to try the pill again in August 2011. By mid-October I was experiencing severe chest pains, pain in my left arm, shoulder, leg, jaw, general weakness on my left side, intense mood swings, severe anxiety, and sensitivity to wheat. I went to ER on a particularly scary evening and they said that all was well with my heart and I didn’t have any blood clots. I stopped taking the pill, the symptoms have diminished, but they still bother me (even as I type this). I did a follow up with my primary care physician after the ER and she suggested that I be tested for the MTHFR defect. The blood test revealed that I am compound heterozygous for MTHFR. She gave me some samples of Deplin (15mg) and told me to try them. I have noticed that my anxiety has minimized and I am able to deal with the pains that I am having, but they have not gone away. My mother and sister have both been tested and they also have the compound heterozygous mutation. Our docotor told us about your website and I visited today for the first time, honestly I feel totally overwhelmed. I feel that I have not reached the methylfolate balance yet. I guess I am wondering what kind of protocol you recommend for compound heterozygous. I just purchased Optimized Folate (1000 mcg) by Life Extension and would like to start it when my Delpin runs out, but I didn’t notice it listed anywhere on your protocol. I have changed my lifestyle (social smoker, drinker) and been gluten-free since the ER visit. Since these changes I have noticed a marked difference with my quality of life, but the pain is still here. I really just want to know if I can ever hope to be pain and axiety free again.

    #2001 Reply


    Wow- My daughter advised me both the OB and High Risk OB advised her there was nothing she should do for the remainder of her pregnancy and she should take folic acid 3 months prior to getting pregnant again.

    So she is Compound heterozygous-one C677T and one A1298C andher physcians have advised her there is nothing she needs to do now (7 months pregnant), nothing she needs to do for herself after pregnancy, and the ONLY thing she needs to do is take folic acid 3 months prior to getting pregnant.

    Still not luck finding an expert in south texas on this.

    #2008 Reply


    If you read all the information available on this website, both Dr. Ben’s articles/videos and all the forum questions and replies, you will know that what your daughter’s physicians are advising is dead wrong, perhaps even literally dead wrong as far as the fetus is concerned. If you can’t find a knowledgable doctor, you and/or your daughter need to become your own experts. You do not need a doctor’s order to begin taking the correct supplements or baby aspirin, and those can make a big difference. You do not need a doctor’s order to stop taking anything with folic acid in it, and instead take the correct form of methylfolate (methafolin or 5-MTHF). You do need a doctor’s order for lovenox or heparin injections, which many pregnant women with MTHFR mutations are advised to take. Your daughter will have to be a warrioress and make the case to her doctors for the correct treatment. An informed and determined patient can sometimes open up a doctor’s mind.

    #2060 Reply


    Thank you- We have found both the needed resources and a physician /Ob in the area who can provide clinical care and testing for the remainder of the pregancy.

    #2073 Reply


    Hey Dr Ben! Late last year I told you I had a stroke at 24 and was diagnosed compound heterozygous and wound up with a PE a month later. You said there were a bunch of things i should be tested for and i told my doctor about what you said, so we tested my Methionine, RBC Methylfolate, lipoprotein little a, CRP hs, serum ferritin and fibrinogen as per your suggestion. Everything looked good, they also tested me for anemia and hypothyroidism and checked my homocysteine again. Everything looked good. Someone told me that I should check SNPS, MAOA &COMT, what do you think?
    Also, I still have trouble breathing, a year and a half after we found my PE…what are your thoughts on respiratory therapy or a chance that i COULD have COPD even though im not a smoker?

    #378161 Reply


    I just find out through 23andme that I have a compound heterozygous. Is overwhelmed the right word? I’m 28, my first child was born with a heart defect and required corrective surgery. I don’t even know where to begin or what to do. Who do I talk to? I have a bad feeling my PCP will not be knowledgeable or receptive. I just need help.

    #378202 Reply


    I am overwhelmed, too, Billie. I am 35 years old. I tested positive for compound heterozygous, too. (I also have Factor II). My homocystine level is in the normal range, too. I was tested and found out in September of this year after having a DVT in my left arm in March.

    I have always had anxiety issues. Over the last 10-15 years my depression has been getting worse (it’s ok now because my Prozac has been increased). I have had heart palpitations since I was a teenager, and was tested by a cardiologist then and was told they were fine, but that I have mitral valve prolapse. My whole life (as far as I can remember) I have been extremely tired. I have a hard time driving for very long before I get dangerously sleepy. Thank God I have not gotten into any accidents.

    I had two normal pregnancies with no miscarriages. Both of my boys have behavior problems and are on the Feingold Diet as well as no dairy, soy, and gluten. I met with a pediatric hematologist last week, showed him my blood test results pointing out my mutations, and asked him if I need to test the boys at their ages (6 and 8)for DVT risk. He said the MTHFR mutations meant nothing because so many people have them and I shouldn’t worry about it. That he was only worried about the Factor II mutation. :( I know what he said is wrong. It felt like such a wasted trip. Ugh!

    I meet with a hematologist in January out of Cincinnati to discuss my blood test results and any treatment I may need to be on (besides Coumadin for life). I am not feeling very good about it. The more I read about it, the more I see that normal doctors and specialists don’t know the correct treatment to do for it. It is so frustrating.

    #378253 Reply


    Dr Lynch,

    I was reading your website and am hoping you can help me. I was a very active, healthy individual until 2 1/2 years ago when my whole life was changed upside down. About 4 years ago I started experiencing muscle weakness, severe period cramps and heart palpitations. I was told my heart was normal and put on prescription Aleve for the cramps which just tore up my stomach. In May 2011 I was doing a new workout program at the gym to try and build muscle cause I was loosing muscle for some reason and all of a sudden I experienced a sharp pain above my knee and then had so much pain in both knees that I couldn’t stand up or walk for more than 1 minute! I haven’t been the same since…I was walking with a cane like this for 1 1/2 years and now have no cane but still can’t stand or walk long (No more than 5-10 minutes) because of the pain in my knees. I’m 38 years old and can’t even grocery shop without riding an electric cart. I’ve seen every doctor you can imagine and no one has any answers for me. I’ve had MRI’s of my knees, brain, spine, and many other tests all coming back normal. I have many other small issues that have risen in my body as well like my stomach being very bloated and pain if I rest my hands on my stomach, very dry skin and hair, constantly thirsty, headaches, muscle weakness and pain, can’t lose weight no matter what I do, upper back pain, etc… I’ve been working with a naturopath doctor since January and am on many supplements….my hormones are off…very low cortisol and low progesterone in comparison to my estrogen, high testosterone, low Vitamin D, E, Magnesium, and extremely high CRP level of 3.74 that won’t go down no matter what I do. I stopped gluten, all dairy except raw unpastuerized cheese, no soy, no nightshade vegetables, only organic meats and still no success.

    So I just had testing for the MTHFR gene mutation and came back positive for one C677T and one A1298C. My naturopath wants to put me on Methyl CPG and that’s all she’s mentioned. I see on your site you talk about many other supplements. Can you please help me?? Do you think my pain and muscle weakness could be from these gene mutations since no doctor can find any other reason and which supplements would you recommend I absolutely take? Should I take the methyl CPG?

    Thank you very much!


    Thank you very much

    #378355 Reply


    Our family has had health problems for several years. I have 7 children (amazingly, in spite of the compound heterozygous) My oldest daughter just found out she has the Compound Heterozygous MTHFR. I decided to test as well and I have the same thing. My question is-can all my children get the same from me or does my husband have to carry one or both of the genes as well. And, is it likely that all my children will have it too? Very overwhelmed and saddened that no doctor has ever suggested this testing in light of all my health problems. Any information will help. Thank you so much!!

    #378405 Reply


    I have also just been diagnosed as compound heterozygous C677T and A1298C. After 3 years of trying to figure out what my issues were, the surface has finally been scratched. I’ve never had any miscarriages and my one pregnancy was very easy.

    This is what I’ve been dealing with the past few years: heart palpitations, chemical sensitivity, GI issues in the form of small intestinal bacterial overgrowth, drug sensitivity, extreme fatigue, tingling in my feet. Low B12 even though I’ve been taking supplements for a very long time.

    Testing showed:
    Low folate, high homocysteine, low normal B12, very high MMA, low carnitine, low pregnenolone (undetectable), low ferritin, low DHEA, low COQ10, high isovalerylglycine, high adipic & suberic acid. No candida

    I’m not really sure where to go from here. My doctor is relatively new at MTHFR stuff and he has given me a script for a compounded vitamin ($150 a month!) It has so much stuff in it that I’m afraid I’ll react horrible to it. I’ve also been taking Methyl B12 injections twice a week for the past 3 months but my levels have not changed. I’m waiting on my 23andme results. I’m wondering if I could possibly have other things going on and maybe I should deal with that before the MTHFR stuff. After 2 rounds of antibiotics over the past 2 years, I still have the SIBO. My most recent SIBO test showed extremely high methane gas and high hydrogen. Other than feeling really bad when I eat, I have no other symptoms.

    I’m 5’3 and weigh 114 pounds. I exercise all the time and participate in endurance races. My job keeps me on my feet and moving all day. I’ve been a vegetarian for 20 years. I feel horrible when I’m doing everything but I refuse to give in.

    #378864 Reply


    My diagnosis with Compound heterozygous (one C677T and one A1298C) came by complete accident. I started to see a chiropractor for my back after I finally got tired of it constantly hurting. An x-ray and MRI revealed that I had Spina Bifida Occulta at my L5 vertebra. Almost a year later I had to switch gynecologist and my first visit as usual I got quizzed about my health history and that of my families. Once I informed her I recently had found out that I had Spina Bifida Occulta…she tested me and there was the source. My mom was tested and she turns out to be Homozygous (2 copies) for A1298C. Which means I must have gotten the C677T from my dad. My sister is currently being tested. I also mentioned to my doctor that I had had a MMC at 7 wks 3 years prior. Coincidence? Maybe, but from what I’ve read…probably not. My doctor put me on VitaMedMD Plus and additional 3MG of folic acid. But that is it. I’m concerned that I’m not receiving the correct treatment with that much folic acid consumption. She said there is no reason the run more test on my folate or homocystein levels. Also Both my sister and paternal grandmother have Lupus Anticoagulant (no lupus though). I didn’t test positive for those, but my level for anticardolipin came back slightly over the normal range. Both my sister and I have both had to have cystectomy for repeated large cysts on our ovaries, however neither have PCOS. Additionally my family on both sides have a long history of stroke related deaths. I’m currently trying to get pregnant and my biggest fear is to have another miscarriage.

    #379234 Reply


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    #379787 Reply


    I recently was diagnosed with compound heterozygous about a month and a half ago after I was hospitalized with four blood clots in my left leg. I had to have three surgeries to help break up the clots and have a stint put into my vein near my pelvic bone to keep the vein from collasping. Since the surgeries I have been on warfarin 5mg one day and 7.5 the next day and so on and so fourth. Unfortunately the clinic I go to to recieve monitoring for my warfarin knows very little about MTHFR it seems. The doctor I have seen since my blood clots there basically told me there was nothing she could give me to help me with my mutations and that just doesnt seem correct at all. Since the surgery my left leg has been pretty much pain free which is wonderful only now my right leg is in constant pain. Nothing I try seems to help it. I’ve had two more dopplers done on my legs and they are clear for blood clots and being that there are no clots this doctor just ignores the fact that I am always in pain. Does anyone have any suggestions for this? The pain isn’t the only problem I experiance due to my mutations either. I’ve had depression issues since I was about 15 years old. I am almost 27 now. The older I get the worse my anxiety gets also. New Year’s Day I was admitted into the hospital over night for the worst anxiety attack I’ve ever had because I was not able to calm myself down. Still my doctor won’t help with that either. I take the highest dose of celexca avaiable for my depression and I am still very depressed. The biggest problem I seem to have though is fatigue. I have 5 beautiful children( thankfully they are healthy so far) and a wonderful very understanding husband. No matter how much rest/sleep I get I have a VERY hard time being able to function for more than 4 to 6 hours at a time. Which I think takes a bigger toll on my depression when I am too tired to do something with my children when they ask me too. I feel so horrible that my mutations are such drastically affecting my families life and I cannot be the mother I used to be. I expressed these concerns to my doctor who brushed these problems off with ” well your going to need to figure out a way to deal with that on your own”. Does anyone have any suggestions for me? Is there a certain type of specialist type of doctor I should be looking into to help me? I’ve asked my primary doctor to help me also but he says he doesn’t know enough about the gene mutation to safely help me. I definately need and new doctor and kind of fast due to my last appointment with this doctor that seems to not know much about my health issues because now she wants me to stop taking my blood thinners at the end of the month!?!? I told her I didn’t think that was a great idea. I have a family history of clots(my grandmother had then and my aunt passed away last august from a PE) along with my clotting issues I am terrified of not taking blood thinners. The clots in my leg was the worst pain I have ever felt in my life. I don’t want to risk going through that again. So please if anyone has any suggestions please reply! Or even shoot me an email. My address is . I really appreciate anyone who takes the time out of their busy lives to help! Everything has happened to me so quickly and no doctor has been able to really explain any of it to me I am really trying to wrap my head around it. Please help!

    #380144 Reply


    Hi Amanda,
    I hope someone emailed you. I would say that seeing a naturopath is vital. Or a group of doctors who consider themselves Integrative Medicine specialists. Often compound hetero- or simply homozygous mutations lead to a plethora of complications later in life. It could be that you are experiencing those issues because of MTHFR gene mutations or because MTHFR has caused other imbalances over time. Its necessary that a naturopath evaluate the tests you give him (Im assuming you took the 23andme test and ran it through Genetic Gene to see if you have others?).

    On Dr. Lynchs product website you will find a lot of supplements you could self prescribe. Most importantly is the quality of Folate (Methyl) and B12.

    Good luck and dont worry. It can be solved!


    #380407 Reply


    Katie-I just went to 23andme and they are not doing this testing.anymore. Mine was done by my doctor. I’m hetero both 1298 and 677. Every time I have severe stress I suffer from panic attacks, ocd thoughts and anxiety. I now have gastrointestinal/throat spasm/excessive congestion issues. Last time my doc put me on a multivitamin with folate. His latest blood test on me shows my heart disease risk has increased. I’m 32 and don’t drink or smoke. Is there a list of docs I can see who are specialists in this area?

    #380416 Reply


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    #380438 Reply


    Also, my homocysteine levels are normal. Is there a way to treat my panic and anxiety and mood and stomach issues without meds? I’m eating mostly greens and almonds, apples and sunflower seeds with fish and chicken and eggs in small amounts. I’ve been doing this trial diet for a week now. I’ve been on 5htp and NAC, and so many other supplements for anxiety for years and it hasn’t gone away. I’d like to deal with it at the source.

    #380483 Reply


    My 48 year old husband was just diagnosed by a neurologist with compound heterozygous MTHFR. He had a stroke in the fall, which was perplexing because he had zero risk factors , other than migraines. He is a healthy eater and runner (full recovery from stroke, which occurred in the cerebellum) and he shows none of the other MTHFR symptoms. He is on blood thinner and being treated for migraines- he probably takes 4 different medications but no vitamins or supplements. What I’ve read is a bit overwhelming. Since he has no current issues and already tends toward a healthy diet, should we just tuck the knowledge away and move forward or should we pursue additional testing, supplements, an even more strict diet, or something else? His neurologist did change his medicine with this result but other than one brochure, has not suggested anything more. Thanks.

    #380571 Reply


    Just tested with results confirming compound heterozygous c677t and a1298c. I have almost an identical experiences to those of Shadiah and Amanda. I am on Pure ONE multi with L T 5 MTHR and when I am good about taking them in combination with magnesium taurate and zinc and liquid iron I feel so strong and happy.. This quickly wears off once my busy life gets in the way of me taking care of my needs consistently. I still cannot tolerate exercise as I am pretty depleted of my own stores of essential nutrients and electrolytes. I was vegan for 3 years and told by my functional medicine doc (who is AWESOME) that I had to get on a diet that includes high quality meats, fish and poultry. I am a mom of 2 little ones and wife to a busy LEO trying to wrap my head around what this means for us. Have been on the natuural organic route for 5 years gluten free and yeast free for 3 which have all helped. I only allow organic whole foods in my house amd on my table and make everythingbfrom scratch. So far just the natural organic overhaul and lifestyle have been a ton of work. Now I am very overwhelmed at how much it seems I will have to do for myself in order to feel like normal people do. I tend to let my self care slide to accommodate my other responsibilities. Any one out there have any good advice? Thanks :)

    #380599 Reply


    I found out last year that I am compound heterozygous when my doctor had some more in depth blood testing done. I also have a prothrombin mutation. When she got the results back she didn’t really know what it meant but she found your site while doing research and immediately started me on methylated folic acid. She did the blood testing due to my having fibromyalgia, IBS, and in general being an “enigma.” Within a two months of starting the methylated folic acid I (happily) found out I was pregnant. I had a great deal of difficulty having my other two boys due to endometriosis and mild PCOS and had two “documented” miscarriages so I was surprised and thrilled. However, this pregnancy was difficult in the extreme. I had extreme exhaustion as well as severe nausea and frequent diarrhea. I saw a “high risk ob” about the gene mutations but was disappointed to find that she knew absolutely nothing about the MTHFR mutations and very little about the prothrombin mutation. She decided that since I had delivered two healthy babies I didn’t need to worry about the prothrombin mutation and was surprised when I suggested it might interact with the MTHFR mutations. Her response after looking it up on “Uptodate” in front of me was that “it might be a good idea to take baby aspirin. Unfortunately, a few weeks later I woke up in a pool of blood and immediately delivered the baby (12 weeks gestation) at home. I went in to the doctor who promptly sent me by ambulance to the ER and surgery because I was hemorrhaging because the placenta had not detached completely. All told they estimate I lost at least 5 pints of blood and I am very lucky to still be here. I know that I had always had a small pocket of blood visible on the ultrasounds but was told that was not abnormal. What did seem abnormal was that the chord was completely detached from the baby. No one has been able to give me any explanation as to what went wrong. They were, however, amazingly quick (as in as soon as the doctor saw me after surgery) to tell me that if I got pregnant again I would HAVE to be on blood thinners. I am just now past what would have been the due date for the baby and am still trying to figure out what general health problems are but I really want try again to get pregnant. I am so frustrated by the lack of answers. The doctor who discovered the gene mutations was my GP and is no longer practicing and I am having a hard time figuring out what the next step is. I live in in the “triangle” and have amazing hospitals around, but haven’t had much luck figuring out if there is a doctor in our area who could figure me out. I am so done with being called an enigma. I am tired of being treated for the symptoms of whatever is causing my problems rather than finding out what the problem is. I just know that I really don’t ever want to have to go through that again. Do you have any advice for finding a doctor or helping future doctors to take this seriously? Thank you!

    #380627 Reply


    I have compound heterozygous c677t and a1298c. I have 2 healthy easy pregnancies at age 33 and 36. Then 2 miscarriages at 40 and 41. I am still 41 and found out I’m pregnant again. I began supplementing the day I conceived (oddly enough not because I thought I had we were trying to avoid it….it was like day 6 for me) but it happened. I was going to a Naturopath to get ready and then found out crap it has already happened. Ok, so this might be my last shot bc I will be 42 in Aug. I have taken a good multi, D3 for 2 yrs, fish oil. But now at 6 weeks I need to get the whole deal asap. My #’s are good hcg 3000 and progesterone 29 at 5 weeks. So below is what I was considering for my daily
    Good Prenatal (Seeking Health or Thorne)
    5 L MTHF with active b12 (Methylcobalamin)??
    Vit d3 it is in olive oil (I’m taking around 8000 mg)
    baby aspirin
    heparin (my ob swears that lovonox is not better than heparin that it doesn’t make a difference) I started this 1 week ago
    CoQ10 (I don’t know how much??)
    P5P (don’t know where to find this, but read that it is good)
    Calm mag/cal
    Then I read about these: Choline, DHA, Vit C, Ubiquinol…but I’m scared to take too many things. Could I overdose on Vit C? should I take Choline, DHA, Ubiquinol??
    Oh and eating a paleo type diet, I feel I am lacking in fiber. I get that I’m suppose to take a ton of green leafies but I read somewhere someone taking Konjac?? Do you recommend a fiber. Bc I get crazy built up gas sometimes and I think the stress I feel when I get it can hurt the baby
    Also I soak my feet in hot water daily bc they are always COLD!!
    When I can afford to go I go to acupuncture and only do walking and yoga for exercise to not stress anything.


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    #381022 Reply


    I am compound heterozygous for C677T and A1298C (Spectracell Labs). I only ran the test when I ran the micronutrient tests on myself last year (showed slightly deficient in B1, biotin, serine, glutamine, lipoid acid). I didn’t even realize what the results meant until I started doing research recently. I am a holistic nutritionist and eat a Paleo diet (past 3 years). I have also tested equivocal for gluten sensitivity (Cyrex labs: wheat germ agglutinin IgG and transglutaminase-6 IgG). I had Hodgkin’s lymphedema 16 years ago, my father has a history of heart disease and my mother has a history of breast cancer. In this past year I have had very low iron levels. What does it mean to have this type of defect but not currently have any of the major problems associated with this defect? Other than maintaining a healthy lifestyle and diet, do I need to take steps to prevent further problems, such as supplementation?

    Thank you.

    #381045 Reply


    I am 28 and I had 3 miscarriages and now I am diagnosed with heterozygous for the mutations c677t and a1298c in the mthfr gene..

    I am having my doctor appointment next week. I am confused and I don’t have any of the symptoms mentioned by others. My first and second miscarriage was at 6th and 7th week and 3rd was on 10 Week and diagnosed to be Triploidy XXY 69.. and the doctors said Triploidy XXY is nothing to do with recurring losses.

    now this test result is very alarming to me :(.. Has anyone came across this, Please advice.

    #381191 Reply


    Hello, In 1991, while pregnant, I developed a DVT. Eighteen years later, in 2009 I was diagnosed with compound heterozygous MTHFR gene mutation. I was told it was no big deal and to just take a baby aspirin a day. However, after doing recent research on the internet, I am finding that some of the aches, pains, symptoms, and illnesses may be related to the mutation and not just my age of 47 yrs. I am coming to the conclusion that I need to do something more than take 1 baby aspirin a day, but I don’t know where to start. I am in need of advice on which supplements I should take and dosages. Please advise. Thank you.

    #381251 Reply


    I found outlast July that I was compound heterozygous after my 3 miscarriage. My doctor hasn’t given me any information apart from continue my pre natals and take an aspirin a day, if I get pregnant I have to take a daily anticoagulant. Since then we have not been able to conceive and I can not find a single doctor where I am that knows about MTHFR or who cares. In the last couple of months I have been doing my own research and have found this website. I also learned about Methly Folate & Cobalamin. I have bought these and have started taking them. I am still trying to get pregnant, as my husband and I want a child. We are having no success, What else should I be taking and doing and how else should I be treating myself to make sure I get pregnant and Stay pregnant and go on to have a health child? Please help I feel so in the dark about this.

    #383761 Reply


    today I have got my results back confirming both c677t & 1298c mutations. I am a 32 year old male and I ‘stumbled’ apon this after a 10 year quest on finding out why I have chronic muscle tension and inflammation, and as of recent years I have had a lot of associated fatigue and I guess anxiety as a result of this and trouble sleeping. A saliva test confirmed my cortisol levels morning and night are 200+ which my naturopath has never seen as high. I am now starting to supplement the following;

    Folinic Acid
    Niacin (causes reaction)
    Zinc Picolinate

    and asdvised to do 23&me test

    I am (somewhat) relieved to have some answers but not sure on lifelong management of this.
    FYI I have 2 healthy daughters 4 & 1 -interwstingly both were IVF but my ‘swimmers’ werent deemed any issue

    Appreciate any insight and advice

    #383764 Reply

    Lisa r.

    My 29 year old daughter is also compound heterozygous – one C677T and one A1298C. I have written about her problems previously on this forum. She is continuing to have problems. We cannot convince her to start on medication that might help, alleviate or positively contribute to her overall wellness. We were happy that she is going to a gym – greatly increasing her activity level. Her moods are only somewhat improving (a day-by-day thing). Her weight loss is minimal although she is eating more high quality/healthy foods (she never was a big eater or consumer of a lot of calories). She is in a stressful job. She is tired of feeling “bad” and being “fat”. She is happy that my MTHFR A1298C (two copies) problems have greatly improved- with Deplin (mainly the gut and dystonia effects) and her father’s modest improvement – on Foltanx for his MTHFR C677T – two copies – (his mainly weight loss and more energy)….However when she was seen by the same health care provider that treats us and was given the results – BUT there was not the push to recommend a medical food or anything else that may improve her health issues – (was it because our daughter was ONLY heterozygous for these MTHFR polymorphisms?). We are very worried. How can you be supportive but not a nagging and/or overbearing parent of an adult child? We are trying to find someone who is knowledgeable in this area. I have even reached out to a nutritionist I have known since high school…No luck so far. While I feel so much better myself and am very encouraged about my husband’s progress I am so concerned about our daughter. She is taking daily 5,000 units of vitamin D – and that’s all. She has severe menstrual cramps (takes naproxen) and has very heavy bleeding (although some months have been better since joining the gym),is super sensitive to smell, sound and taste, has alcohol intolerance and has severe swelling reactions to bug bites (if there is a bug anywhere it will find her). She has had a positive ANA result, inflammation and abnormal liver functions (result of excess weight and possible hereditary condition she shares with Dad and brother). HELP!

    #383772 Reply

    Dave B

    Hi Lisa R

    I feel for you

    Sounds a bit like the ol ‘you can lead a horse to water , but you can’t make it drink’ I suppose in the end it is only her who can decide to make the necessary changes, as heartbreaking as that may be for you. When her health gets to a point where it challenges her lifestyle/too much pain, then she will probably take action

    I am heterozygous C677T and A1298C and had severe health problems for most of my life, so I know what these mutations can do to one’s health

    Good luck

    #525774 Reply


    Hello Everyone,

    I too am compound heterozygous and am at a loss for how to go about treatment and maintenance when both 677 and 1298 are +/-.

    1.MTHFR C677T Homocysteine → methionine
    2.+=reduced activity = increased homocysteine (not necessarily in clinical setting)
    3.+=increased S-adenosylhomocysteine (SAH) → impaired COMT → increased dopamine
    4.Chronic Fatigue Syndrome, Fibromylagia, IBS, Alzheimers, Bipolar, Chemical Sensitivity, Stroke, etc
    a.Dr. Lynch. Dr. Yasko, and Dr. Foster have protocols.

    1.MTHFR A1298C 5-methylfolate (5MTHF) → tetrahydrofolate (THF).
    2.+ = decreased BH4, less nitric oxide → increased ammonia → decreases BH4
    3.lower BH4 → decreased serotonin, melatonin, dopamine, norepinephrine, and epinephrine
    a.Decrease the need for BH4 (Yasko).
    b. Metal detoxification.
    c. 5-methyl folate supplementation
    d. If COMT (-/-) [iishana is -/-], nutritional support to help maintain dopamine levels, so that need less BH4 to generate dopamine.
    e. Nutritional doses of BH4 after other Methyl Cycle challenges have been addressed, with
    • Molybdenum, EDTA, carnosine, and zinc can help balance copper/zinc ratios.
    f. Dr. Lynch. Dr. Yasko, and Dr. Foster have protocols.

    #525781 Reply


    Sorry about that – my reply suddenly posted before I formatted it and ended it. Those are my notes for each SNP. In case you are wondering, Dr. Foster is also known as heartfixer. I am deeply grateful for the pioneering work of Dr. Lynch, Yasko, Foster, and others. Hopefully, they will soon reveal an approach to compound heterozgous MTHFR.

    #527511 Reply

    Dave B

    Hi iishana

    I too am compound heterozygous MTHFR (C677T / A1298C) I also have a number of other polymorphisms, which collectively mean that I have a predisposition for neuro-psychiatric issues

    Looking at what you have written … you almost certainly will have problems making enough B4, which means that your neurotransmitter production will probably be down, leading almost certainly to neuro-psychiatric issues. If you have any COMT, MAO-A, MTRm MTRR or VDR Taq polymorphisms, then your problems will probably be compounded. You may also have raised homocysteine levels as I did, due to your heterozygous C677T. You probably also suffer with inflammation /autoimmune issues as well

    These are my polymorphisms and may be of interest to you:
    MTHFR C677t (+/-), MTHFR A1298C (+/-), COMT V158M (+/+), COMT H62H (+/+), VDR Taq (+/+). MAO-AR297R (+/+) MTRR A66G (+/-) MTR A2756G (+/-)
    In my case I have basically resolved almost all long standing health issues by taking the following:

    5-MTHF (400mcg/day); (Deplin has 7500mcg for comparison)

    Methyl-B12 (400mcg/day)

    Astaxanthin /anti-oxidant ( 400mcg/day; the amount I would consume if I was eating a diet rich in Salmon)

    Vit D3 4000IU/day

    The reasons for taking these supplements are rather complex, but have a good think about how my polymorphisms relate to you … and then how my supplement regime could have resolved my issues, and how this then could relate to your situation. I am then happy to discuss this further if you want, including providing you with my personal email address if that would help.

    good luck

    #542596 Reply


    Dear Dave B,

    Thank you so much for your reply. I will compare our polymorphisms and take a close look at your supplementation. Thanks also for your kind offer to talk if need be!


    #542613 Reply


    Hello Again Dave B.,

    We are the same for MTHFR C677t (+/-), MTHFR A1298C (+/-), (+/+) MTRR A66G (+/-) MTR A2756G (+/-).

    We differ in these ways:
    *I am COMT -/- for both, but have other SNPs that cause excess and reduced dopamine.
    *I am VDR Taq +/-, which might be close enough to indicate similar treatment?
    *I am MAO-AR297R +/-, which might be close enough to indicate similar treatment?

    You wrote that these supplements have been helpful to you:

    *5-MTHF (400mcg/day); (Deplin has 7500mcg for comparison)
    *Methyl-B12 (400mcg/day)
    *Astaxanthin /anti-oxidant ( 400mcg/day; the amount I would consume if I was eating a diet rich in Salmon)
    *Vit D3 4000IU/day

    I will look further into this. Thank you!

    In the meantime, I wonder what your thoughts are about this: I saw the methyl-B-12, I recalled that Yasko suggests making sure lithium is in balance first. Here is an excerpt from scribd.

    “Dr. Yasko says, Many adults as well as individuals who are MTR A2756C + tend to have lower levels of lithium as judged by hair metal analysis (HMT). Supporting with higher levels of B12 before having ascertained that lithium is in balance may lead to further depletion of lithium levels. For this reason Dr. Yasko highly suggests running a hair metal test (HMT), and/or blood lithium test along with a urine essential element test (UEE) to assess the lithium level in the system. If lithium levels are low in hair and blood or urine, or if very high level lithium excretion (in the absence of support is seen in urine) consider additional lithium supplementation with your doctor before moving on to B12 support”. ( – scribd)

    Gotta run.

    Take care,

    #544159 Reply


    Hi Dave,
    I am in a similar boat, thanks for your information.

    Here are my results: Compound Heterozygous- MTHFR C677T & MTHFR A1298C

    additional SNPs
    MAO-A R297R ++
    BHMT-08 ++
    COMT V158M +-
    COMT H62H +-
    VDR Bsm +-
    VDR Taq +-
    ACAT1-02 +-
    MTRR A66G +-
    MTRR K350A +-
    BHMT-02 +-

    In addition to your protocol, do you recommend any additional supplementation for a profile like mine?

    I believe after every stressful event, I struggle with my health…which makes me think I further deplete my b vitamin reserves…

    I have hashimotos, weight issues, trouble getting motivated, feelings of discouragement, anxiety, etc…

    Thanks so much!!

    #544349 Reply


    Hi everyone,

    I too am compound heterozygous MTHFR (C677T / A1298C) I also have a number of other polymorphisms, I do suffer from depression, anxiety, and mainly OCD, also am a type 1 diabetic. I have no idea where to even start with this information?

    These are my other heterozygous genes
    heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):

    COMT V158M
    COMT H62H
    VDR Bsm
    VDR Taq
    MTRR K350A

    This is my Detox profile on Genetic Genie also…

    CYP1A1*2C A4889G rs1048943 TT -/-
    CYP1A1 m3 T3205C rs4986883 TT -/-
    CYP1A1 C2453A rs1799814 GG -/-
    CYP1A2 164A>C rs762551 AA -/-
    CYP1B1 L432V rs1056836 GG +/+
    CYP1B1 N453S rs1800440 TT -/-
    CYP1B1 R48G rs10012 — no call
    CYP2A6*2 1799T>A rs1801272 AA -/-
    CYP2A6*20 rs28399444 II -/-
    CYP2C9*2 C430T rs1799853 CC -/-
    CYP2C9*3 A1075C rs1057910 AA -/-
    CYP2C19*17 rs12248560 CT +/-
    CYP2D6 S486T rs1135840 GG +/+
    CYP2D6 100C>T rs1065852 GG -/-
    CYP2D6 2850C>T rs16947 AG +/-
    CYP2E1*1B 9896C>G rs2070676 CG +/-
    CYP2E1*1B 10023G>A rs55897648 GG -/-
    CYP2E1*4 4768G>A rs6413419 GG -/-
    CYP3A4*1B rs2740574 TT -/-
    CYP3A4*2 S222P rs55785340 AA -/-
    CYP3A4*3 M445T rs4986910 AA -/-
    CYP3A4*16 T185S rs12721627 GG -/-
    GSTP1 I105V rs1695 GG +/+
    GSTP1 A114V rs1138272 CC -/-
    SOD2 A16V rs4880 AG +/-
    NAT1 R187Q rs4986782 GG -/-
    NAT1 R64W rs1805158 CC -/-
    NAT2 I114T rs1801280 CT +/-
    NAT2 R197Q rs1799930 GG -/-
    NAT2 G286E rs1799931 GG -/-
    NAT2 R64Q rs1801279 GG -/-
    NAT2 K268R rs1208 AG +/-
    Gene Result
    GSTT1 Present

    If anyone can chime in on what I should be taking or any guidance would be greatly appreciated!
    CBS C699T

    #547614 Reply

    Kristen K.

    Hi Kyle,

    I was recently diagnosed with compound heterozygous (C677T) and (A1298T) after two subsequent miscarriages. I, too, suffer from anxiety and ocd tendencies (thoughts mainly) and am trying to understand if these mutations are the cause. Any insight on this?
    Also, where did you have your testing done? I have an appointment with an integrative medicine physician locally in the next few months, and am assuming he will order these.
    I wish I could assist you on interpreting the results, but I am just beginning my quest to understand all of this.


    #548830 Reply

    Dave B

    Hi iishana

    I have not looked into lithium at all, It is not something that I have had to take, and my research on resolving my problems never took me in that direction

    My initial supplementation (Calcium Folinate (folinic acid) which resolved many issues, did not include any B12, so perhaps B12 is not a critical vitamin that I am deficient in. (initial blood test results for B12 were within normal limits, although at the lower end) Because of my MTRR A66G (+/-) polymorphism, I have subsequently decided to take Methylcobalamin (B12), but only at low levels, because I cannot tolerate high levels of methyl groups because of my COMT (+/+) and Mao-A (+/+)

    good luck

    Good luck in your research and supplementation schedule

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