6

votes

MTHFR Deficiency - Tell Me Your Story

Answered on August 19, 2014
Created August 06, 2012 at 10:52 PM

I've seen a few questions and answers touch on this, but I'm curious: Has anyone been treated for hetero- or homozygous methylenetetrahydrofolate reductase (MTHFR, aka "Motherf***er) enzyme deficiency? If so, what symptoms were you having previously that supplementation has alleviated?

I ask because I'm in the beginning stages of going through functional medicine channels to hack my mood issues, fatigue, and brain fog. They seem to think this may be the magic bullet for me. That would be lovely, but I'm a skeptic.

I plan to start taking some phosphorylated B-Complex supps they gave me, but the test results won't be back for a few weeks. They say if I start feeling better, then we can rest assured this is something that's going on.

So how'd it work for you?

7841848bd0c27c64353c583fb7971242

(7275)

on April 10, 2013
at 11:38 PM

Just as an update: I'm still seeing improvements. I'm within my normal range of cognitive ability. I'm around 40 hours a week at work (though my goal is about 60 hours per week, and before I got sick I was averaging 70 hours a week). I'm still taking the b vitamins. And sleep has been crucial: I need 9 to 10 hours a night, whereas I used to need only 8.

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 08:37 PM

Turns out in fact that I'm compound hetero. Cripes. Good thing I had a hunch! Thanks again for your help!

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 08:26 PM

Well, I do have symptoms which has essentially led me down this path in the first place. I was diagnosed by a Naturopath a few months ago as having a functional B12 deficiency after months of numbness and tingling. Functional because my serum B12 was actually elevated despite not supplementing at the time. Wanted to see if MTHFR could shed any light on the situation and it looks like my methyl pathways are all sorts of jacked up!

21b36b3de8ff31b0d41e7f0f4b5c1e03

(1688)

on April 09, 2013
at 03:04 PM

Good luck. Also, even if you have the MTHFR mutation it doesn't mean you'll necessarily experience any symptoms. I have it and I feel well & healthy in every respect.

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 02:59 PM

I can already feel my brain melting.

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 02:08 PM

Thanks a billion!

21b36b3de8ff31b0d41e7f0f4b5c1e03

(1688)

on April 09, 2013
at 01:42 PM

You have to run your 23andme data through Promotehease (for a more general analysis) at http://promethease.com/ondemand or Genetic Genie (to look for MTHFR) at http://geneticgenie.org/. The affected SNPs are rs1801133, rs2066470 and rs1801131

7841848bd0c27c64353c583fb7971242

(7275)

on December 10, 2012
at 10:13 PM

I've now been stably improving for about a month (when I switched from Jarrow to Enzymatic Therapy). I'm able to go to work 4-5 days a week, for 4-6 hours a day. I'm at about 90% with-it-ness, and working about 40% the hours I want to be, but I'm seeing improvement, especially the last couple weeks.

7841848bd0c27c64353c583fb7971242

(7275)

on December 10, 2012
at 10:11 PM

Nursling, I'm taking folate (solgar works well for me) and methylB12 (enzymatic therapy) 3 times a day, with the b12 lozenges dissolving between my lips and gum for as long as I can. I also take adenosylcobalamin (dibencozide) once a day. In addition, I take a multi-b vitamin, vitamin C, zinc, D, and some others. I also put potassium chloride in all the water I drink, and take probiotics and BH4. Once or twice a week I take SAMe. I've had some ups and downs since August, mostly on account of stopping the vitamins while on vacation, and from a change in Jarrow's methylB12.

76211ec5301087de2588cfe3d6bccba9

(1178)

on October 09, 2012
at 09:34 PM

Sara S. have you had any changes? I am in the boat you were re: failing out of school because of symptoms. what exactly are you taking for supplements?

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 29, 2012
at 04:28 AM

I should add that my vit D was low (36) even after a summer of lots of sun. So who knows what trouble that was causing too.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 29, 2012
at 04:27 AM

Yes, thanks Sara S.! Heterozygous on A1298C. Now supping with 5MTH. Hard to say whether the supplementing is helping or not, but I'm having very few bad days lately. So far so good, but I know someday I'll be tempted to go without the supplements to see what happens. The 5MTH stuff is expensive!

7841848bd0c27c64353c583fb7971242

(7275)

on August 28, 2012
at 03:00 AM

Any update on what the functional medicine docs found?

7841848bd0c27c64353c583fb7971242

(7275)

on August 18, 2012
at 11:07 PM

I've been suffering from brain fog for over a year (probably up to 3 years) and I just started feeling normal last week. It's amazing. I won't fail out of grad school after all!

7841848bd0c27c64353c583fb7971242

(7275)

on August 18, 2012
at 11:06 PM

I'm finding that there are a ton of other SNPs involved, and which ones you have mutations in will change how you supplement. http://heartfixer.com/AMRI-Outcomes-Non-CV-Autism-Methyl%20Cycle.htm seems to be a reasonable resource, and some people on the phoenixrising forum have created a google document where you can enter your 23andMe SNPs to get a better picture.

7841848bd0c27c64353c583fb7971242

(7275)

on August 07, 2012
at 07:56 PM

I just got an email from mthfr.net (which is a good resource I forgot to mention) about a new thread regarding niacin supplementation. http://mthfr.net/forums/topic/mthfr-tt-suppliments-niacin-concern/ I've been taking niacinamide (mostly because Ray Peat recommends it so highly) and it turns out that it soaks up the extra methyl groups.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:21 PM

Yes, it's a genetic test, so it takes a few weeks to get results. But it's a regular blood draw (says she with the cotton ball taped to her arm). My doctor seems to agree with zoomia's that it is very common.

6eb2812b40855ba64508cbf2dc48f1b6

(2119)

on August 07, 2012
at 04:06 PM

I haven't been diagnosed with anything, but I do take SAMe to great success in treating my anxiety issues. I've also added methylated B6 and B12, and that's helping me chill out even more. When I dropped the SAMe in the past because I thought it wasn't doing anything, I found out in a week that it was because I turned into a crabby mess.

7841848bd0c27c64353c583fb7971242

(7275)

on August 07, 2012
at 03:06 PM

Keep in mind, the 33% enzyme activity is not 33% compared to normal. It's overall how active (thermolabile) the enzyme is. With both good copies of the gene, the enzyme activity is just 66-67%, so being homozygous for the mutation, you're getting half the activity of a person with both copies good. It doesn't make much difference in how you respond, but I wanted to clarify because I think many people are misled by the 33% figure (I know I was when I first started looking into this stuff.)

1398eff69b192c35de5e0dbaad59052a

(2024)

on August 07, 2012
at 02:44 PM

Specific test. My doctor says that she thinks a huge portion of the population has one of the mutations and that testing could help a whole lot of people.

3cdc762b2ae30b4ca3529f011ccac174

(186)

on August 07, 2012
at 05:11 AM

My husband & I are both homozygous, but with different variations. Ironic! We do the methylB12/methylfolate thing with TMG now, been doing it for about a month. I feel so much more energy. I was spotted spontaneously housecleaning recently, without my usual OMG-it's-time-to-swiff-the-floor-god-I-hate-this feeling; I also have started to just move more in general, without really thinking about it. Recently I tried skipping a day to see what would happen and that was bad cranky. I was like, Wow, oh yeah, I was recently like this wasn't I? Never going back. MethylB12 4Evuh.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:44 AM

Huh. Sorry it wasn't what you were looking for, but good luck getting it all figured out. That's why I tagged this with "rabbit-hole", because it definitely feels that way sometimes.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:43 AM

That's awesome. My social anxiety is definitely an issue on bad days, so here's hoping.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 06, 2012
at 11:54 PM

Thank you! Very helpful. I'm a freelance writer and stay-at-home mom, and I've been so grateful during this time to not have an office full of people to deal with. Yowza.

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5 Answers

3
7841848bd0c27c64353c583fb7971242

(7275)

on August 06, 2012
at 11:19 PM

I love that you call it the Motherf***er enzyme, too. When I talk about it, that's always what I say. Because it really is a mother f*er.

I found out that I'm hetero for the C677T mutation with a 23andme analysis. I started supplementing with methylcobalamin, folate, and a bunch of other b vitamins, and within about a week or two I was feeling much better. My symptoms were fatigue, brain fog, difficulty concentrating, anxiety, depression. It has been bad enough that I'm at risk of losing my job. I'm getting better, but still not back to normal.

The enzyme activity if you're heterozygous is not that much reduced from normal: 56% enzyme activity for C677T compared to 67% for C677C (wild type), so about 84% the activity of normal. I think the reason it was so bad for me is because I have celiac disease, including 2 years of chronic diarrhea, so I wasn't able to absorb much in the way of b vitamins. I tried getting blood tests to determine my B12 and folate status, but I had already started taking the vitamin supplements and so I don't know how to interpret my low-end-of-normal results.

Edited to add: I started the B supplementation about a year after starting paleo, including near-weekly liver and oysters. So in my case, I wasn't able to get enough from a solid meal-plan.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 06, 2012
at 11:54 PM

Thank you! Very helpful. I'm a freelance writer and stay-at-home mom, and I've been so grateful during this time to not have an office full of people to deal with. Yowza.

3cdc762b2ae30b4ca3529f011ccac174

(186)

on August 07, 2012
at 05:11 AM

My husband & I are both homozygous, but with different variations. Ironic! We do the methylB12/methylfolate thing with TMG now, been doing it for about a month. I feel so much more energy. I was spotted spontaneously housecleaning recently, without my usual OMG-it's-time-to-swiff-the-floor-god-I-hate-this feeling; I also have started to just move more in general, without really thinking about it. Recently I tried skipping a day to see what would happen and that was bad cranky. I was like, Wow, oh yeah, I was recently like this wasn't I? Never going back. MethylB12 4Evuh.

7841848bd0c27c64353c583fb7971242

(7275)

on August 07, 2012
at 07:56 PM

I just got an email from mthfr.net (which is a good resource I forgot to mention) about a new thread regarding niacin supplementation. http://mthfr.net/forums/topic/mthfr-tt-suppliments-niacin-concern/ I've been taking niacinamide (mostly because Ray Peat recommends it so highly) and it turns out that it soaks up the extra methyl groups.

7841848bd0c27c64353c583fb7971242

(7275)

on August 18, 2012
at 11:07 PM

I've been suffering from brain fog for over a year (probably up to 3 years) and I just started feeling normal last week. It's amazing. I won't fail out of grad school after all!

76211ec5301087de2588cfe3d6bccba9

(1178)

on October 09, 2012
at 09:34 PM

Sara S. have you had any changes? I am in the boat you were re: failing out of school because of symptoms. what exactly are you taking for supplements?

7841848bd0c27c64353c583fb7971242

(7275)

on December 10, 2012
at 10:13 PM

I've now been stably improving for about a month (when I switched from Jarrow to Enzymatic Therapy). I'm able to go to work 4-5 days a week, for 4-6 hours a day. I'm at about 90% with-it-ness, and working about 40% the hours I want to be, but I'm seeing improvement, especially the last couple weeks.

7841848bd0c27c64353c583fb7971242

(7275)

on December 10, 2012
at 10:11 PM

Nursling, I'm taking folate (solgar works well for me) and methylB12 (enzymatic therapy) 3 times a day, with the b12 lozenges dissolving between my lips and gum for as long as I can. I also take adenosylcobalamin (dibencozide) once a day. In addition, I take a multi-b vitamin, vitamin C, zinc, D, and some others. I also put potassium chloride in all the water I drink, and take probiotics and BH4. Once or twice a week I take SAMe. I've had some ups and downs since August, mostly on account of stopping the vitamins while on vacation, and from a change in Jarrow's methylB12.

7841848bd0c27c64353c583fb7971242

(7275)

on April 10, 2013
at 11:38 PM

Just as an update: I'm still seeing improvements. I'm within my normal range of cognitive ability. I'm around 40 hours a week at work (though my goal is about 60 hours per week, and before I got sick I was averaging 70 hours a week). I'm still taking the b vitamins. And sleep has been crucial: I need 9 to 10 hours a night, whereas I used to need only 8.

2
E8bf28bd28f5be7c34d4a1a97e7c1353

(253)

on August 07, 2012
at 03:50 AM

According to 23andme I'm homozygous with only 33% enzyme activity. Though my blood work shows normal histamine, folate, methionine, and homocysteine levels. Supplementing with B-vitamins and TMG hasn't really helped anything. The search is still on.

7841848bd0c27c64353c583fb7971242

(7275)

on August 07, 2012
at 03:06 PM

Keep in mind, the 33% enzyme activity is not 33% compared to normal. It's overall how active (thermolabile) the enzyme is. With both good copies of the gene, the enzyme activity is just 66-67%, so being homozygous for the mutation, you're getting half the activity of a person with both copies good. It doesn't make much difference in how you respond, but I wanted to clarify because I think many people are misled by the 33% figure (I know I was when I first started looking into this stuff.)

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:44 AM

Huh. Sorry it wasn't what you were looking for, but good luck getting it all figured out. That's why I tagged this with "rabbit-hole", because it definitely feels that way sometimes.

2
1398eff69b192c35de5e0dbaad59052a

(2024)

on August 07, 2012
at 03:40 AM

I call it that too! I'm heterozygous.

I've been taking it for a year. Sadly, it has not helped my vitiligo, though I am horrible at remembering to take pills, so I have periods where I don't get it in every day.

I didn't have brain fog, etc., but I will say that my anxiety, always on the higher end, is sooooo much better. I've always been a worrier, and I had no idea what it was like not to worry so much and obsess about everything. Not to say that I don't worry at all, but I think it's at a more normal level now.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:43 AM

That's awesome. My social anxiety is definitely an issue on bad days, so here's hoping.

6eb2812b40855ba64508cbf2dc48f1b6

(2119)

on August 07, 2012
at 04:06 PM

I haven't been diagnosed with anything, but I do take SAMe to great success in treating my anxiety issues. I've also added methylated B6 and B12, and that's helping me chill out even more. When I dropped the SAMe in the past because I thought it wasn't doing anything, I found out in a week that it was because I turned into a crabby mess.

0
06bf7b92d77f1ac1d8e3dc9d539d8254

on April 09, 2013
at 01:26 PM

Okay, so this is an old thread, but hopefully someone will get the notification and help a girl out! I hear all this talk about the MTHFR SNP that is found on 23andME, but where is it? I have been staring at my 23andME results and I can't seem to find it?! Am I that dense?

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 08:26 PM

Well, I do have symptoms which has essentially led me down this path in the first place. I was diagnosed by a Naturopath a few months ago as having a functional B12 deficiency after months of numbness and tingling. Functional because my serum B12 was actually elevated despite not supplementing at the time. Wanted to see if MTHFR could shed any light on the situation and it looks like my methyl pathways are all sorts of jacked up!

21b36b3de8ff31b0d41e7f0f4b5c1e03

(1688)

on April 09, 2013
at 03:04 PM

Good luck. Also, even if you have the MTHFR mutation it doesn't mean you'll necessarily experience any symptoms. I have it and I feel well & healthy in every respect.

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 02:59 PM

I can already feel my brain melting.

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 02:08 PM

Thanks a billion!

21b36b3de8ff31b0d41e7f0f4b5c1e03

(1688)

on April 09, 2013
at 01:42 PM

You have to run your 23andme data through Promotehease (for a more general analysis) at http://promethease.com/ondemand or Genetic Genie (to look for MTHFR) at http://geneticgenie.org/. The affected SNPs are rs1801133, rs2066470 and rs1801131

06bf7b92d77f1ac1d8e3dc9d539d8254

(1649)

on April 09, 2013
at 08:37 PM

Turns out in fact that I'm compound hetero. Cripes. Good thing I had a hunch! Thanks again for your help!

0
59e818af2184847f09c8a63a45adcdbb

on August 07, 2012
at 01:34 PM

Does this condition get picked up by regular blood tests, or is there a specific test the doc needs to order? Thanks!

1398eff69b192c35de5e0dbaad59052a

(2024)

on August 07, 2012
at 02:44 PM

Specific test. My doctor says that she thinks a huge portion of the population has one of the mutations and that testing could help a whole lot of people.

F5f742cc9228eb5804114d0f3be4e587

(7660)

on August 07, 2012
at 04:21 PM

Yes, it's a genetic test, so it takes a few weeks to get results. But it's a regular blood draw (says she with the cotton ball taped to her arm). My doctor seems to agree with zoomia's that it is very common.

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