18 February 2014

Health Tips for Anyone with a MTHFR Gene Mutation...


If you haven't seen the popular blog on MTHFR Gene Mutations... What's the big deal about Methylation?, you might want to start by familiarizing yourself with this common genetic mutation that can affect everything from depression and anxiety to risk of heart attack or stroke.

In light of the amount of questions and comments I've gotten, it's about time I write a follow-up blog giving you some helpful hints in dealing with this common genetic SNP that can affect your health in so many various ways.


A little background to bring you up to speed on methylation...

First, I suggest going back to re-read the previous blog article before moving on. For a quick review.... let's define methylation.  Methylation is the act of a carbon and three hydrogens (namely a methyl group) attaching itself to an enzyme in your body. When this methyl group attaches to an enzyme, the enzyme performs a specific action. One thing you might not realize is that methylation is responsible for is the breakdown of histamine. A methyl group is made and then floats around until it finds a specific binding site. In this case, the methyl group binds to histamine. When a methyl group binds to histamine, histamine breaks apart and goes away.   Many patients who have one or more methylation SNPs, like MTHFR have a hard time breaking down histamine, which can wreak havoc on the body in many ways!

If you haven't been tested and want to find out if you have this common genetic mutation, you can ask your doctor to order MTHFR gene mutation testing through LabCorp.   Better yet you can order a genetic profile directly without a physician order online through 23andMe for only $99.

Key functions these donated methyl group are:


  • Protecting DNA and RNA.  If DNA is not protected it is susceptible to damage by viruses, bacteria, heavy metals, solvents and other environmental toxins. Over time if this damage becomes significant and could even result in cancer.
  • Reducing histamine levels (see this article)  Sometimes the common methyl-donor, SAMe can help reduce histamine levels.
  • Protecting cell membranes.    The methyl group donated by SAMe helps build phosphatidylcholine which then gets incorporated into the walls of all your cells.  If these cell membranes become damaged and weak, the cells become fragile and harmful things may enter the cell.  If they are unable to carry in useful nutrients, they will die. Excessive cell membrane damage can lead to serious medical conditions, such as multiple sclerosis.

What are some things I can do if I have the MTHFR gene mutation?

Here's ten tips for you!

  1. Avoid taking folic acid blocking or depleting drugs, such as birth control pills or Methyltrexate
  2. Avoid taking proton pump inhibitors, like Prilosec or Prevacid or antacids, like Tums, which may block essential Vitamin B12 absorption
  3. Have your homocysteine measured, which if elevated may indicate a problem with methylation or a deficiency of B12 or folate.  If your homocysteine is elevated, limit your intake of methionine-rich foods
  4. Avoid eating processed foods, many of which have added synthetic folic acid.  Instead eat whole foods with no added chemicals or preservatives.
  5. Get your daily intake of leafy greens, like spinach, kale, swiss chard or arugula, which are loaded with natural levels of folate that your body can more easily process.
  6. Eat hormone-free, grass-fed beef, organic pastured butter or ghee, and eggs from free-range, non-GMO fed chickens.  
  7. Remove any mercury amalgams with a trained biologic dentist.  Avoid aluminum exposure in antiperspirants or cookware.  Avoiding heavy metal or other toxic exposure is important.
  8. Make sure you supplementing with essential nutrients, like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics.  If you are double homozygous for MTHFR mutations, you should proceed very cautiously with methyl-B12 and methyl-folate supplementation as some people do not tolerate high doses.  Introduce nutrients one by one and watching for any adverse reactions.  Use extreme caution when supplementing with niacin, which can dampen methylation.
  9. Make time for gentle detox regimens several times per week.  These could include infared sauna, epsom salt baths, dry skin brushing, and regular exercise or sweating.
  10. If you have a known genetic mutation, share the information with parents, children and other family members and encourage them to be tested, too!  The easiest way is to order  through 23andMe for only $99 online.

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108 comments:

  1. This comment has been removed by a blog administrator.

    ReplyDelete
    Replies
    1. Hi Megan, I much prefer real food over supplements whenever possible and frequently recommend patients make a morning smoothie (like this one - http://doccarnahan.blogspot.com/2011/03/dr-cs-spinach-berry-smoothie.html) with raw leafy greens, a natural source of folate.
      Blessings
      Dr Jill

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    2. I was told by my dr that I not only have a limited ability to convert folic acid but also naturally occurring folate from food. Which makes sense... Otherwise this mutation would be irrelevant. So I have so far avoided folic acid (since it is so abundantly found) and take methylfolate ... And other mythyl B vitamins.

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  2. Hi Dr Jill!
    I just found out that I have the MTHFR c677t mutation (hetero), and not the A1298c. My doctor has me on a neuro-immune stabilizer cream, a probiotic, b12 shot, nature-throid (very small dose), and D3. The reason I went to see her to begin with was because I've experienced 50-60% hair loss, and I'm exhausted all day long (until its "bed time".. then I'm wide awake). She told me to eliminate gluten/sugar/soy/dairy, and that I should follow the Paleo diet. I don't think I can do this!

    I have a few questions:

    1. How do you feel about rice products? Do I NEED to eliminate them too? I'm really really struggling with this strict diet. I'm almost eating nothing everyday because I either don't like my options, or I'm afraid its on the do not eat list. I feel awful. Can I have honey?

    2. At 30 years old, how likely is it that I could have a healthy baby if I decide its soon time?

    3. My ferritin is 17. It was 30 in July. My understanding is my hair loss could be due to these low levels. Is this a result of the MTHFR mutation? I'm extremely depressed over my hair loss. Could it come back? My actual iron levels are fine.

    My homocysteine is 8.4, DHEA 210, folic acid 18.5

    She also has me on a low dose Nature-Throid due to my thyroid levels being at the low end of the ranges.

    Thank you for all of your information. This is all brand new to me so I will be following your blog!

    Ashley


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  3. Hi Ashley,
    Thanks for your comments & questions. Diet is absolutely essential and I know the changes can be hard. Start by eliminating all processed foods (anything in a package, box,etc) as most of them will contain gluten, dairy or soy. Breakfast ideas are eggs and nitrate-free organic bacon or a Thorne Vegalite protein smoothie - see recipe in previous post above. You can order Vegalite directly from thorne.com using physician code = HCP1004064. Perhaps most important is getting rid of sugar, which is inflammatory and contributes to all kinds of chronic disease. There is no reason why you shouldn't be able to conceive especially with the healthy diet changes you are making. For more Paleo snack ideas, check out this post. http://doccarnahan.blogspot.com/2013/08/healthy-snack-attack-paleo-safe-options.html

    Blessings!
    Dr Jill

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  4. Hello Dr. Jill
    I have 1298c a/c as well as c677t. I was told this mean het compound. Anyway :) My question is, I was on Lipo C w Sunflower lecithin from nutricology, and was very fatigued and also my nails started turning gray. I stopped taking it, was it depleting my iron or copper maybe? I know I need more C than I am getting, but it is hard to take a multi with out folic acid in it! They are very hard to find, thanks for any updates. ps, my dad has his 23andme done, and we found he has COMT and CBS issues as well, which I too react to lots of sulphur.

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  5. Hi Rnus,
    These are complicated issues and I suggest you see a functional medicine doctor to evaluate and treat you for any other nutritional deficiencies.
    Blessings
    Dr Jill

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  6. I have MTHFR 677 T/T genotype. Recently, I started taking Thorne Research Methyl-Guard with some additional methylated B-12 from Life Extension. Now I am tired with low energy and stamina versus pre Methyl Guard. Before taking this I was doing very well taking Thorne Research 5-MTHF 1 mg. daily as well as Jarrow Formulas methylated vitamin B-12. No other changes in my lifestyle or diet. My physical therapist even noticed my kidney and adrenal energy levels have declined and asked me if I noticed lowered energy levels. I've stopped taking Methyl Guard and replaced it with MTHF-5 this AM to see what happens. What in the Methyl Guard could cause this reaction beyond .2 more milligrams of methylated folate?

    ReplyDelete
    Replies
    1. Could be the addition of the TMG... I believe that the Methyl Guard and Mythyl guard plus (by Thorne) have that in it. I also experienced that too :( but because I didn't want to wasted them I just took them a couple times a week instead of daily and then i didn't feel as tired.

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  7. Not everyone can tolerate Methyl Guard. You need to start slow and add one thing in at a time. Every person is different on what they need as there are many more gene mutations than just MTHFR

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  8. Hi Jill,
    I think that you have considerably understated the methylation issue. Methylation is essential for making correctly folded myelin basic protein, without it MBP does not associate properly with myelin. It is also essential for immediate memory, for the production of creatine (part of the creatine phophate system), for the production of carnitine, essential for fatty acid uptake into mitochondria, for the production of adrenalin, for the production of methylhistidine, an essential structural requirement for muscle myosin, and for many, many other reactions in the body.
    People with mutations in methylation associated enzymes, MTHFR, CBS, MTRR, etc, and who don't supplement properly with 5MTHFR, plus methylcobalamin, also eventually become deficient in adenosylcobalamin and then suffer true VB12 deficiency. This of course depends upon the combination of other complaints that they have, hypothyroidism being one.

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  9. hello Jill
    thank you so much for the information it has been helpful, im starting to understand some things (most being way over my head) A few years ago my son was diagnosed with severe depression and anxiety, he has been seeing a wonderful dr. this year we decided to start taking him off the medication (since he was doing so well) when we did he start regressing, the dr ordered blood work he tested him for the MTHFR mutation, which came back positive for two types *677T/677T at 30%. the dr ordered deplin for him which he will start taking. im trying to better understand this mutation. Im also trying to see if some of it can be corrected with diet? Also from what I was told if the pill works form him he might be looking at a life long medication? My son is 14 will be 15 in September, he is young and does not like taking medication. any help that you can give me or a direction to fallow would be greatly appreciated. again thank
    wendi

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  10. Hi Wendi,
    Dietary sources of folate are important, like raw leafy greens but I suggest a complete evaluation of neurotransmitter levels, gut function, food sensitivities, inflammatory markers, organic amino acids, etc to determine what other imbalances he has that can be corrected. Try getting connected with a functional medicine trained doc in your area (www.functionalmedicine.org)
    Warmly
    Dr Jill

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  11. Hi Dr Jill. I recently learned that I am positive heterogeneous for both mthfr mutations. I am taking methylguard. I am also positive heterogeneous for the prothrombin gene mutation. My recent blood work indicates high folic acid levels. Do you suggest any other supplements to help treat this condition? Is the high folic acid level anything to be concerned with?

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  12. Hi Dr Jill. I recently learned that I am positive heterogeneous for both mthfr mutations. I am taking methylguard. I am also positive heterogeneous for the prothrombin gene mutation. My recent blood work indicates high folic acid levels. Do you suggest any other supplements to help treat this condition? Is the high folic acid level anything to be concerned with?

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  13. Dr Jill, I recently learned I am positive heterogeneous for both mthfr mutations and also positive heterogeneous for the prothrombin gene mutation. I am taking 1 baby aspirin per day and metabolized. My blood work indicates a high folic acid level. Is the high levels anything to be concerned about? Do you suggest any other supplements?

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  14. Hi angbrig - this may indicate you are accumulating unmetabolized folic acid. I would make sure you are not eating processed foods fortified with artificial folate or taking any supplements that contain it. Persons with MTHFR mutation cannot convert it well into active methyl-folate.

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    Replies
    1. I am taking Thorne's MethylGuard. Is this enough to help or are other supplements recommended ? My Vitamin B12 is well within the normal range.

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    2. Hi Angbrig, many people with MTHFR mutations or other methylation mutations, have tried using MethylGuard, but it did not help, but rather confounded the situation. There are many discussions on this on Phoenix Rising web-site, and Chris Kessler's B12 deficiency web-site. Some of the people who have supplemented have extremely high B12 levels, but still are suffering from B12 deficiency. This is paradoxical, I know, but these people (some of which have CFS) have done very well by having combined Methyl and Adenosyl B12. Apparently the methyl B12 deficiency also leads to adenosylcobalamin deficiency. You can check this by having your MMA levels tested. If they are high then you will know that you are AdoCbl deficient.

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  15. Hi Angbrig, High serum folate levels is a well known complication of MTHFR individuals. You need to have your intracellular (red blood cell) folate measured. This indicates whether you are trapping folate inside the cell or not. If your intracellular folate levels are low (and I bet they are) it will indicate that you are not effectively trapping folate within the cell. This normally indicates that you will be deficient in vitamin B12 as well, which is a known complication of the MTHFR and associated methylation related mutations. You will need to take high dose oral methylB12 or the topical methylb12 from b12oils to correct this. You should then see your blood folate levels drop and your intracellular folate rise.

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    Replies
    1. I am taking Thorne's MethylGuard. Is this enough to help or are other supplements recommended ? My Vitamin B12 is well within the normal range.

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  16. Is there a supplement or multivitamin you can recommend instead of Methylguard?

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  17. Hi there.
    Ive just been diagnosed with C677T homozygous and the only thing that has been wrong with me has been low level anxiety all my life except for a couple of years ago where the defect has really kicked in and it's turned into depression and the anxiety has ramped up. I already eat really well (healthy food nazi wafe;) I have already played with Methyl-B12 and methylfolate (not l-methylfolate though) and I tolerated the B12 for a while but methyl folate made me feel more anxious and gave me a super dark mood. Apparently That could mean that I have other gene faults like COMT, CBS etc. what do I do now? Any suggestions would be much appreciated! Thanks

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  18. Hi TimTam, sounds like you are nearly on the right track. Go get the rest of your genetics done to find out what other gene alleles you have. Check your vitamin D levels, they should be above 100 nmol/L, get your thyroid function T3/T4 levels done and see if you need help with these. Then continue 5MTHF plus mixed Ado/MeCbl. If you are MeCbl deficient you more than likely be AdoCbl deficient.

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  19. Hi Timtam, agree with Marjorie but recommend keeping 25 (OH) Vitamin D levels in serum between 50-100 and not above 100. Many patients with autoimmune disease have trouble if this gets too high because they are converting to 1,25, hydroxy D.

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  20. Thanks so much for the replies!
    I will get my thyroids checked. The last time I had them checked was when I was first diagnosed with depression, and they were normal – right in the middle of the range.
    I have had a full blood count as well as RCF (folate), B12, Vit D, Zn, Cu etc just recently and everything thing was pretty much in the middle of normal range except for Folate and B12 which were up toward the higher part of the normal range.
    I’ve been taking for the last three days (in the morning) 200mcg l-methylfolate, 1000 mcg hydroxyl-B12, 1000mg Vit E, 1 x Jarrows NAC sustain tablet, 1 heaped spoon of Ethical Nutrients “Meta Mag” (which contains 300mg elemental Magnesium, 300mg Vit C, 67.6mg elemental Calcium, 3g Taurine, 53mg elemental Potassium and 50mg Vit B6.) and Probiotics.
    I felt good the first couple of days but yesterday I felt terribly anxious and depressed in the evening. Today I feel OK…
    I have sent my sample off to 23andMe today so we’ll see what other factors are in play. In the meantime I’ll keep on with this routine unless someone can advise otherwise?
    Thanks

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  21. oh, and also I tested positive for H. Pylori in a BIG way! 3700 was my result. I had no idea I had it! I never suffered any effects from it. I took triple therapy (Nexium Hp7) and am going to do another urea breath test soon to see it it was successful in eradicating it. I don't feel any different after all that? I don't know if that has any relevance to anything MTHFR? cheers!

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  22. Just recently found out that I am compound hetero for MTHFR. This is after 10 months of feeling terrible. My functional med dr gave me an injection of Vit b12 before knowing I was MTHFR deficient. I reacted negatively to the injection, in a very severe way. What can I do to get myself straightened out. My Vit b12 level was 1592 two weeks after the injection. I am aware that finding the right balance of supplements can be tricky. I'm fearful and so tired of feeling bad. Can you offer advise, please?

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    Replies
    1. Your reaction to the VB12 injection certainly says that you are B12 deficient. Many people (well around 5-10%) have a strange reaction to it. Basically their nerves etc haven't been firing properly, they haven't been making sufficient neurotransmitters and then WHAM, off they go. It can be very disturbing, BUT it is a sign that you are on the right track. Start with less and build up

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  23. Please remember ... your genetic SNPs don't make who you are or what health problems you have. Most important thing... 80% of feeling well is clean whole food organic diet - get rid of gluten dairy, soy, sugar, all processed foods, decrease stress, get 8-9
    hours of sleep per night before going to supplementation. Until you get the basics right, it isn't wise to think that supplements can fix the problem. Second you need to find a physician trained in your area or available by phone that can work with you to guide personalized treatment. If you have not already done so, I suggest searching www.functionalmedicine.org.

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  24. I just found out I am Homozygous for A1298C? What actions do I need to take to deal with this new information? I have not been able to find a knowledgeable Dr so far, in Australia. Would very much appreciate any suggestions. Thanks.

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    Replies
    1. Hi, you don't say if you are B12 deficient, or what your symptoms are. You need to find out if you have any other methylation associated SNPs. You should start on 5MTHF and mixed Adenosyl/methyl cobalamin. There is help in Australia at http://www.mthfrsupport.com.au/ . You also find out more at http://www.vitaminb12deficiency.net.au/Home.htm

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  25. Recently diagnosed with MTHFR 667TT and want to start 5MTHF to start feeling better, however I'm breastfeeding my seven-month old. While I'm sure the supplements would be beneficial to him, I worry about the initial detoxification. I've read you should never detox while breastfeeding, which makes sense. Should I wait until he is weaned to start, or can I pump and dump for a while (I have no idea how long the detox process lasts). Any input would be really appreciated.

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    Replies
    1. Folic acid is important for newborn development and should be taken anyway during pregnancy and breastfeeding so I see no harm in starting low-dose (1-2mg) 5MTHF now)

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    2. Thanks for taking the time to reply. I appreciate it.

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  27. It doesn't look like 23 and me is doing the genetic health test any longer just DNA ancestory lines. Is that correct? I just did the test and its not showing any genetic mutations.

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  28. Hi Meagan, never fear! All the raw data is still there, 23and me will no longer provide interpretation for you but any trained functional physician will help you determine your SNPs and you can download your entire raw data genetic information

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    Replies
    1. Thank you! I think I've heard that along the way. How do I find such a practitioner? By the way, thank you for your lecture on the Thyroid Summit. Loved every minute!

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  29. Hi Meagan, try searching by zip code at www.functionalmedicine.org for trained physicians. I appreciate your kind words on the Thyroid Summit - it was fun to be a part of it! For anyone else who's interested, here's the link http://doccarnahan.blogspot.com/2014/05/your-thyroid-plays-part-in-nearly-every.html

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  30. Hello,
    I tested positive for the MTHFR C677T mutation and my B12 levels were at 900. I have struggled with extreme anxiety and depression for quite sometime. I haven't been able to take B vitamins as they keep me up all night. I recently started taking 5HTP which has helped my mood along with desiccated liver pills and the insomnia is back. I'm not sure if it's from the liver pills which are high in B vitamins or the HTP. Is it normal to have severe insomina when taking B vitamins with the MTHFR mutation.
    Thanks,
    Claire

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  31. Hi Claire, MTHFR is one of hundreds of SNPs and each patient is individual. You may have a problem with another SNP, like COMT or others which could cause insomnia
    warmly
    Dr Jilll

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  32. What do you think of Homocysteine Supreme as a supplement?

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  33. Hi Julie, I prefer Thorne Methyl Guard Plus
    Dr Jill

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  34. I just got my genetic results and I am MTHFR A1298C plus COMT, MOA-A,MTRR,CBS and more. I have had burning mouth for the past 2 years and it was just getting worse... now I added HydroxyB12 under my lip to last really long and L-methylfolate. I have not found a functional dr trained in this area of Minneapolis. I am using nutritional response testing with a chiro dr here and have a great diet to heal. I have found mercury and arsenic that is being pulled out with standard process whole food supplements. I have high B12 and low homosytine. I started taking at least 3 B12 sulinguinals a day as it helps the burning in my mouth. I wonder how much I can take and if the hydroxy is the best or another kind. I am having a hard time finding good B12 without extra fillers. Know anyone in this area? I need relief of this as soon as I can! It has been a dreadful experience! Any suggestions on what else to try?

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  35. Hi Stacy, ask your doctor about B12 injections. That might work better for you...

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  36. Thank you for sharing, I will check into this!
    blessings!

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  37. Forgot to ask...what kind of B12 injecton? I see on my 23and me is suggests hydroxy but on other websites there is a discussion about methylcobalamin ... I know it depends on how my genes are working together. or just cyancobalamin?

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  38. Don't use cyanocobalamin but you may try either methylcobalamin or hydroxycobalamin. I usually start with methylcobalamin and use hydroxycobalamin when there are high NO levels.

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  39. I thought so. I see my health report said to stay away from nitric oxide so I assume I would be the hydroxy B12 then.

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  40. Hi Stacy, I would suggest two things. Firstly get as far away from your health provider as possible. The second it that you make nitric oxide naturally in your body. It is used to open up blood vessels and to help attack micro-organisms. The only NO you need to avoid is in aneasthetics, but this has been stopped now due to it causing anemia. The two natural forms of vitamin B12 in your diet and in your body are adenosyl B12 and methyl B12. If you doctor tells you differently it is time to change doctors and find someone who knows what they are talking about. This is very basic and has been established for over 60 years. You can even google it. Good luck finding someone who knows.

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  41. Thanks for your comments, Marjorie. While it is true that nitric oxide is a good thing for the body in some cases, when there are pathologic infections present (gastrointestinal dysbiosis, viral infections, etc) the body produces excess nitric oxide in attempt to rid itself of infection and it may very well cause problems. These are the types of patients who do better on hydroxyB12 but it's important to know that your body can make too much NO so external sources aren't the only problem...

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  42. How does one find a doctor in St. Paul/MPLS that knows how to help me?

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  43. Hi Stacy,
    Search for functional medicine trained physicians by zip code at www.functionalmedicine.org.
    warmly
    Dr Jill

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  44. After multiple miscarriages, I found out that I am hetero C677T. My doc prescribed a daily baby aspirin and 5MG of folic acid. I stopped taking the folic acid and started taking L-methlyfolate. Since then (4 weeks ago), I have headaches each day and am very jittery. My doc says to take the folic acid, as I am only hetero for MTHFR. I don't know what to do.
    Thank you!
    Kelle

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  45. Hi Kell elizabeth, You should stop the l-methylfolate if you are having these side effects. There are other nutrients in the methylation cycle and other SNPs that can affect metabolism. You will need to find a functional medicine expert and get further testing to determine the best course of action. This lab may be useful - http://www.hdri-usa.com/tests/methylation/
    warmly
    Dr Jill

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    Replies
    1. I found a doc who specializes in epigenetics. He practices "functional nutrition and wellness." Would this be someone who may be able to help? Thank you for your help!

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  46. Thank you for your response! I will find a functional doc and hopefully figure out what's going on. I wish you were closer to KC!! Thank you, again!

    Kelle

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  47. Sure, Kelle - wish you the very best in health and healing!!

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  48. I have MTHFR1298 I did find a functional doctor who put me on Homocysteine Supreme and I took 1 on Thur, 2 on Fri, 3 on Sat and got so ill and the muscle pain in my upper leg would not leave and in my back and neck and felt flu and tired...and then took 4 on Sun and then really got sick with my burning mouth so hot I needed a firetruck! Finally realized that this must be over methyalation and stopped. Now was told to start slower so broke a pill of 2400mcg methylfolate into 1/4 and it also had 1.000methycobalmamin so today I took only 1/4 and plan to only take 1/4 for the next few days. I will chat with her today but wonder what questions I can ask.. I do have COMT, AMOA, and CBS with all this too. If I start real slow will my body start to use the methylfolate and catch up on the pathway and work better with everything else..my neurotrasmitters are a mess. I bet that is why my mouth has burned up for the past 2 years and was getting worse, and I am so sensitive to all foods I eat. Any questions I need to ask when I chat with her to help clarify what is the real issue to attack first?
    Thanks.... Stacy

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  49. Hi Stacy,
    I rarely start patients with more than one thing at once and recommend very low doses. You should ask her to do organic acid testing to determine specific needs of each nutrient.
    warmly
    Dr Jill

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  50. I already did organic acids testing so I will alert her to look at this.

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  51. My folate metabolism...uracil and thymine are both high so looks like methylfolate might be needed. I also noticed 4 neurotransmitters out of 7 are High. My vitamins are in the upper limit except for B5 and B2 is High. NAC is in the middle. and glutathoine is in the top orange range with ammonia ecess in the upper limit range as well. So I will have her take a look at this more closely. So wonder if I should take the Vit C and NAC. She had me order Rlipoic acid and cant see that on here. Guess we need more doctors like you,!

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  52. Hi Dr. Jill,
    I am heterozygous for C677T and A1298C, and have histamine intolerance and severe adrenal fatigue and multiple food sensitivities. I've tried taking supplements but have had little success; for instance, Methyl Guard actually worsened my condition, leaving me bedridden the entire two weeks that I tried it. And in reading the comments here, it seems like other people have had similar experiences.

    And so, my question is this: is it possible to get the proper/essential amounts of B vitamins and other needed nutrients solely through food? Or, to ask it in a different way, does my C677T/A1298C gene mutation mean that I can get the proper/essential amounts of B vitamins and other needed nutrients ONLY through methylated supplements?
    Many thanks,
    Michael

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  53. Hi Michael - what you are experiencing is normal and a reason that I always introduce nutrients individually and "start low and go slow" You will likely still need supplementation but I advice proceeding with caution.

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  54. Dr Jill: What is your take on lacking intrinsic factor? I have MTHFR1298 and when ever I take any B12 I dont feel well and get burning mouth. I think I will ask to have this checked.

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  55. Hi Stacy,
    Yes, it could be the wrong form or lacking something else. Either way, if you are having side effects, please stop the B12

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  56. Good Morning Dr. Carnahan,

    I just found out that I am hetero for:
    MTHFR C677T
    MTHFR A1298C
    COMT V158M
    COMT H62H
    BHMT -08

    and homo for:
    VDR Bsm
    MAO-A R297R
    MTRR K350A
    CBS C699T

    I suffer from chronic hypersomnia, GERD, and mild depression. I generally function pretty well.

    Routing blood work has all come back WNL. (CBC, CMP, B12, & thyroid).

    My two questions are:
    1) Looking at my mutations and symptoms, would you suggest any supplements (perhaps methyl b-12)? My diet is mainly vegetarian.

    2) I would like to meet with a functional medicine physician; however, I used the link you provided and none are found within 150 miles of me (Tampa, FL). I did find a chiropractor who identifies as a "functional medicine" doctor, but am not sure of his competencies. Do you have any suggestions for how to find a physician who will understand my results, order appropriate diagnostics, and recommended appropriate supplements?

    Thank you so much for any information you can provide!

    Warm regards,

    Kevin

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  57. Hi Kevin
    As you might imagine, I cannot give medical advice on the blog. However, what is most important is your personal health history and symptoms in combination with your genetics. The genetic SNPs alone do not determine supplementation. I suggest consulting with a functional medicine doc by phone if necessary and getting your gut checked and nutritional status checked with Genova CDSA and NutrEval to determine specific nutritional needs. Wish you the very best in healing!
    warmly
    Dr Jill

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  58. Jill,

    Thanks for your response. I would not have considered a phone consultation and have not heard of those diagnostics. I'll look into each of these options!

    Just a side note, it's really great that you take time to maintain this blog and to respond to people like me. If there's a gene for caring, you just might have an extra copy.

    Best,

    Kevin.

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  59. HI Dr. Jill,
    I am Homo c667 and wondering what kind of Dr I should look for? There is also no one in my state ( AR) that is a functional Dr. I was diagnosed by my thyroid NP. I am Celiac with Hashimoto' but my concern is heart issues. I lost both grands to it and would like to be proactive. I take methyl 5 and methyl b-12, I take Vit D etc. but would like to know what tests I should get for heart issues? No Dr's I have found are aware of what needs to be done and I'd like to walk in with the info to help them. Thank you so much!!

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  60. Hi
    Check www.functionalmedicine.org for docs close to you and if necessary you may need to travel to see someone who can help you. There are just not enough trained functional medicine docs yet so in some areas it can be hard to find an expert. I have patients fly in from all over the US to see me because there is no one in their area. Wish you the very best in your health and healing journey!
    warmly
    Dr Jill

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  61. What is the best multivitamin available in Australia for people with MTHFR gene mutation?I have it on one gene line.My son has it on both.We need to start with something small, mild, child dose.Thank you Michelle

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  62. Try Thorne Basic Nutrients 2/day - https://shop.thorne.com/products/multiples/basic-nutrients-2-day
    You can order direct from Thorne Research using code: HCP1004064

    ReplyDelete
  63. You might want to rethink recommending curcumim. I believe taking it for joint inflamation at a dose recommended in Ayurvedic treatments caused my sudden violent reaction to histamines. I have had lifelong issues with hives and "sudden allergy" to things and now I pray I understand. I have seen research that curcumin inhibits DAO in the gut.

    ReplyDelete
  64. Hi Katysatnam, Yes, any supplement can cause histamine reaction if you are sensitive to it but I stand by my recommendation as this is very rare occurrence. I am sorry to hear you had so much trouble!
    warmly
    Dr Jill

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  65. Hi Dr. Jill, I have the A1298C gene mutation (along with MAO A R297R, BHMT -02, 08), taking now NAC and methyl-guard. My alopecia totalis is the most distressing (losing eyelashes and eyebrows recently). Saw another comment about losing hair, wondering if you see any genetic correlation and alopecia? Thank you, Cynthia

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  66. Hi Cynthia, I don't know of any direct connection but autoimmune alopecia could be a culprit. I would certainly check the gut and fix any imbalances.
    warmly
    Dr Jill

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  67. Please clarify: A methylfolate chewable is not going to work it has to be a l-5-mthfr ?

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  68. Hi Dr. Jill - I have 2 copies of the A1298C gene mutation and am almost 30 years old. My gene mutations were discovered after recurrent miscarriages, the most recent being a genetically-normal IVF pregnancy (tested as an embryo and after my D&C). My Dr. put me on Folguard, which I stopped shortly after scaring myself silly w/ Google. I now take Thorne's basic prenatal and 400 mg methlfolate at various times throughout the day to increase absorbtion. I've been doing this for several months now and am pregnant again w/ letrezole. I'm not even 6 weeks and already had a scan b/c suspected subchorionic hematoma (confirmed). It just seems like complications never end. I know it is best to take the advice you have given, but I'm wondering will I get better? Or just not any worse? If I take these supplements and do my best to get B vitamins through my food intake, how long will it take for my body to start functioning normally? - SL

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  69. Hi Jill,
    Is there a connection between metabolizing vitaninB6 and a mutation A1298C? It's been 6 months I am struggling to find why I twich and tingle all over, and blood work showed high vitaminB6 levels, although I am not taking any supplements. My MRI was clean but TSH a little high. A naturopath ordered some blood work and found I had a mild variant of the mutation, however she could not advise me further.
    Thank you so much,
    Mona

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  70. Hi docter Jill,

    I received my 23andme results today and and really confused at how to interpret the MTHFR data. I got the following results:

    Homo (+/+)
    MAO-A R297R
    MTRR K350A
    CBS A360A

    Hetero (+/-)
    COMT V158M
    COMT H62H
    VDR Bsm
    VDR Taq
    ACAT1-02
    MTHFR C677T
    MTHFR 03 P39P
    MTHFR A1298C

    What does this mean for me and what would you recommend in lifestyle/diet/supplement changes with these mutations?
    Also, I noticed some data was missing from the test due to inaccuracy in te test/sample. Would you recommend testing again to get the data on these genes or are these not very important?

    Missing data (no call)

    MTRR H595Y
    MTRR R415T
    BHMT-04
    AHCY-01
    CBS N212N
    SHMT1 C1420T

    Thank you! You are amazing! :-)

    ReplyDelete
  71. Hi docter Jill,

    I received my 23andme results today and and really confused at how to interpret the MTHFR data. I got the following results:

    Homo (+/+)
    MAO-A R297R
    MTRR K350A
    CBS A360A

    Hetero (+/-)
    COMT V158M
    COMT H62H
    VDR Bsm
    VDR Taq
    ACAT1-02
    MTHFR C677T
    MTHFR 03 P39P
    MTHFR A1298C

    What does this mean for me and what would you recommend in lifestyle/diet/supplement changes with these mutations?
    Also, I noticed some data was missing from the test due to inaccuracy in te test/sample. Would you recommend testing again to get the data on these genes or are these not very important?

    Missing data (no call)

    MTRR H595Y
    MTRR R415T
    BHMT-04
    AHCY-01
    CBS N212N
    SHMT1 C1420T

    Thank you! You are amazing! :-)

    ReplyDelete
  72. Is there any harm in taking 10 capsules per day of Methyguard. This was suggested by my doctor as an alternative to 5MTHF.

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  73. Oh my gosh! I feel like I finally may be on to something. I have literally been sick (functioning but sick) for 5 years. I'm tired all day and wired at night. I just keep getting sent from dr to dr which all say everything is fine. Well the 1/3 head of hair I have left and my nausea atleast 5 times a week tells me I'm not fine.

    One Dr. here in Indianapolis I saw a year or so ago that I discontinued due to expense and felt she was too busy for my silly little issues did hit on one thing. I have the Hetero MTHFR. I started to feel better when she was doing the Meyer cocktails 1x week but that is simply not feasible for my budget or time as I'm a single mom.

    Dr. Carnahan, I would be forever thankful if you have any doctor referrals in Indiana. At this point I'm willing to drive or do whatever I need to do. My kids have seen me complain, cry and be a lazy slug way too long. I'm 51. Surely this isn't how I have to feel the rest of my life.

    Thanks so much!
    Aimee

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  74. Hi Aimee - Try Dr. Ellen Antoine in Carmel, IN - she's amazing. Tell her I sent you! Her practice is Vine Healthcare.
    dr Jill

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  75. Hi Dr Jill

    I was wondering if you could provide me with some advice.

    I currently got tested for the mthfr gene c677t and was positive for this gene (homozygous) and had a positive homocysteiene test with an elevated amount of 73.7. I'm only 30 years old and have a host of medical problems, and my doc would like to start me on weekly b12 injections (methyl cobalamin). I still have to get my histamine test done, however I was wondering would I get side effects from the injections cos my homocysteine levels are so high and I still have to get histamine levels checked. I'm just scared of any side effects eg itching etc cos I'm very sinistiive to medications and won't be able take anything if I get any side effects when I start the injections (1000mcg a week). I was just wondering if any side effects are experienced when trying to reduce homocysteiene levels without knowing histamine levels, and if it's ok to start at 1000 mcg weekly b12 methycobalamin injections.

    Thank you Jill :).

    Ren

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  76. Hi Ren
    B12 is often the first step in restoring normal homocysteine levels. So I think you should follow your doctor's recommendations and give it a try.
    Warmly
    Dr Jill

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  77. Hi Dr Jill,

    I just found your site last night, and appreciate the info I have found so far.

    Can you please comment regarding niacin - what are possible signs of dampened methylation? Or are there markers that can be tested for which would indicate it should be discontinued (other than elevated liver enzymes)? I am taking it for genetic cholesterol problems, but I don't feel well on it. I can handle the burning from the flushing, but I also get light headed and tired, and sometimes have an uncomfortable weak sort of feeling in my neck and arms.

    Thank you,
    Dee

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  78. Hi Dee, I recommend urinary organic acid testing to determine nutrient needs, like niacin
    warmly
    Dr Jill

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  79. Hi iam homo for mthfr mutation gene and hetero fo lieden mutaion gene iam from egypt and dr told me to take folicacid in high dose what i do

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    Replies
    1. I cannot give medical advice here - treatment must be individualized, there is no protocol.

      Delete
  80. Hi dr jill
    I homo for homo for mthfr gene mution postive
    Ana hetero for v leiden gene mutaion postive dr told me to take high dose from folic acid aslo i understand now it is wrong what i do

    ReplyDelete
    Replies
    1. Check with your doctor, a better alternative may be methyl-folate.

      Delete
  81. Hello Dr. Jill,

    I am a 25 yr old female and homo for the C677T gene. I was diagnosed with ADHD about 8 years ago and have been taking vyvanse and adderrall ever since. I also take trazadone because I have a lot of difficulty sleeping at night but during the day I feel groggy. In the past year I have noticed my hair falling out and has basically stopped growing. I feel tired most days and have little motivation to do anything but don't really feel depressed. My doctor just prescribed me 15 mg of Deplin and I want to know your opinion. Do you think this will help with my fatigue and hair loss? Is there anything else I should be taking along with the Deplin? Please help because I have tried everything!!

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  82. Hi there -Best to get a evaluation to see what else you need through a functional medicine doctor. Testing may help.
    warmly
    Dr. Jill

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  83. search www.functionalmedicine.org

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  84. Hello Dr. Jill,
    I am heter MTHFR and homo Factor V Leiden, and I have recently developed very bothersome PVC's with occasional tachycardia, the EMP that I have recently seen says that he doesn't believe that there is any correlation and that I should not be concerned. I also suffer from Reynaud's and had a past TIA episode. Do I really need to be concerned or not with my new heart symptoms?

    Thank you!

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  85. You should not ignore cardiac symptoms

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  86. Hi Dr. Carnahan,

    Thank you so much for this helpful website and your posts about MTHFR. I have an MTHFR gene mutation and experience debilitating panic attacks and anxiety. I graduated from the University of Illinois in 2010 (I see you went there too!). Panic attacks have been an issue for me throughout some of high school, but primarily during college and after graduation. I am currently taking 40 mg of Duloxetine (Cymbalta) daily. I've been on the Cymbalta just a few weeks now. I have also just started taking optimal liposomal glutathione. With your experience with MTHFR patients, do you think the Cymbalta and glutathione are safe and effective together? I've read that Cymbalta can recirculate the folic acid in your body which can cause issues, but I'm unsure if this is true. There is a lot of information out there and I thought seeking an expert medical opinion on this subject would be the safest and smartest solution (especially a doctor from my alma mater!). Thank you for any help, Dr. Carnahan.

    ReplyDelete
    Replies
    1. I wish there was an easy answer but it depends... there are so many variables besides just MTHFR that may affect your health

      Delete
  87. Dear Dr. Jill: I just found your site and am thrilled! God bless you. My question is concerning hair loss. BACKGROUND INFO: I'm a 36 yr old female and have had aggressive hair loss for the last 6 months. I've seen two dermatologists and they both assured me there's nothing wrong with my scalp, the hair is coming out at the follicle and will eventually grow back. I was told it was stress related and to wait-it-out. However, I believe there is more to the story. I've been healthy most of my life (with the exception of chronic antibiotic use for bronchitis and sinusitis) until I crashed last year and was bedridden for months. My illness was brought on in March 2015 by an intense flu, car accident, and severe allergy to an antibiotic. I was diagnosed with Postural Orthostatic Tachycardia syndrome (form of dsyautonomia) and now I'm also being treated for Mast Cell Activation Disorder (even though my tests are mediator negative, my symptoms are responding to treatment). I've also tested positive for MTHFR C677T heterozygous. I'm off dairy, no gluten, no soy, eating whole foods, organic, no sugar and nothing processed. I've also started eating a low histamine diet. I'm supplementing with methylfolate B vitamins and take L-Glutamine daily.
    QUESTION: what else can I be doing to help stop my hair loss? Am I missing something? If you have any suggestions please I'm open to anything you have to say. Thank you so much! In peace - Christina "Oh Lord my GOD, I called to you for help and you healed me." PSALM 30:2

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  88. Hi Dr Jill, I am planning for pregnancy, what dosage of methylfolate, vit B6 and B12 should I take to greatly reduce risk of birth defects? I do not have MTHFR mutations but do have an SLC heterozygous mutation (not sure what this does?). Thanks for your advice.

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