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norcalmom

mthfr C677T/A1298C

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We finally got this test done, turns out DS has one copy of each mutation. I believe they call it heterozygous for both. Or compound heterozygous.

 

Can anyone out there give me the 2000 ft overview of what this could possibly mean?

 

DS had glutithione level checked years ago - it was fine at that time. I think compound heterozygous most related to homocystine levels, which he will be tested for soon, and that the heath issue with those most common were heart problems. I have a phone consult with the doc that ordered this test next week. What questions or tests should I be asking about?

 

Ive read its is the "worst" combination to have, but I don't see any studies or data on that statement, or anything that says what % of the population has the different mutations...Anyone know of a site where I can find that?

 

Thanks!

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It would actually be worse if he was compound homozygous ... With two copies of each mutation. My dd is also compound hetero and the biggest issue has been finding two doctors who agree on anything regarding MTHFR. We've seen several of the PANS specialists and they all say you don't need to do anything unless the homocysteine levels are high. I think it's so new very few doctors really understand it. We've started with using Vitaspectrum instead of regular vitamins with folic acid and B 12. Statistically speaking about 70% of the population has an MTHFR mutation. I know my husband has the 677, so I assume I have the 1298 :)

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The 2000 ft overview is that about 45% of the US/European population has an MTHFR mutation. The C677T mutation generally effects homocysteine and indirectly, ATP (cell energy) and generally makes you an undermethylator (tho mutations in other genes can also influence this). When you are heterozygous, you're running at roughly 50% efficiency and when you're homozygous, you're running at about 10% efficiency for what that particular gene is supposed to do.

 

Doctors are wrong that it doesn't need to be treated and that measuring homocysteine is an accurate assessment of this gene's impact. As with many things, symptoms need to be factored into treatment recommendations. Generally, you should be treated with a low dose of methylfolate + methylB12. (my DD8 has had huge improvement in mood swings since settling on a supplement of 67mcg methylfolate + 1000mcg methylB12 every other day).

 

Much less is published about A1298C but it effects the "backward" cycle of methylation and it's role in the BH4 cycle. The BH4 cycle directly effects serotonin and dopamine levels. It also seems to play a role in GI issues. Treating the roadblock created by C677T will help and is a first step. Later, if there are still issues and you've addressed any other methylation mutations, you can supplement with TMG or DMG to try to support the BH4 cycle.

 

I know you only want a high level overview so this is the bottom line - treating MTHFR with an appropriate level of methylfolate+methylB12 (and avoiding foods or vitamins with regular folic acid) will help with energy, reduce some factors that contribute to heart disease and improve mood and levels of neurotransmitters (but there are other factors that influence this - MTHFR is just one player).

 

How you do treat for your child depends on his other methylation markers and for that, you'd need 23andMe results or Yasko results, and you'll need to dive into the deep end and teach yourself the nitty gritty of methylation, snps and how it all interplays. In addition to the links Red listed, here are some others:

http://chronicdiseasetalk.wordpress.com/

http://www.mthfrsupport.com/1/post/2012/01/the-importance-of-bh4-in-the-mthfr-a1298c-gene-mutation.html

http://www.mthfrsupport.com/1/post/2012/05/other-gene-mutations-that-must-be-addressed-before-starting-an-mthfr-protocol.html

http://www.easytolovebut.com/?p=2782

http://www.heartfixer.com/AMRI-Nutrigenomics.htm (scroll down past the diagram)

http://www.renewashoe.com/medical/

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I agree with what was said and want to add the following. No one can actually tell you what it means. You have to figure out what it means for your child. We got two children both with both mutations. We don't know what other mutations they might have. At the moment, low doses of methylation supplements seem to be working. kids are also on gluten free and dairy free diet.

I don't remember what their homocysteine levels were which means probably that they were not low.

in general, my sense is that their immune system can easily get out of balance. it, however, does not have to be or remain out of balance.

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Thanks for all the good info. We got back results of a urine test - and it pretty much made me a believer. The only area out of whack in his results are the amino acids related to B-vitamin processing. Histidine was 1533 (271-993) Isoleucine 20 pt above hi of range, Leucin almost double hi for range, ditto for Methionine, Gluatmeic acid, Tyrosine, a-aminoadipic Acid, sarcosince, AND Tryptophan.

 

And - Formiminoglutamic Acid (FIG lu) was elevated above normal levels as well. All point to lack of B vitamins...

 

DS has been off EVERYTHING for over 2 months now. It started with a break from the antibiotics, and then coming off supplements to get testing done, and then there were a couple of tests he was suppossed to be fasting for, and other excuses...and now I can't wait to start him on - vitamins!!!

 

Doc wants him to take Mythl Guard Plus - has B12, methyl Folate, B 6, B2 and TMG. As well as liposodal circummin, yucca extract, green tea extract, and some high dose D3.

 

She doesn't seem to think we need to work up to the dose on the Mthyfolate (methyl guard), just dive right in, and I've read on-line that working up is recommended, and even doing the B-12 first to see if there is a bad reaction (over methlyation or methyl trapping).

I know he doesn't have an issue with the B-12, because he's taken high does in a supplement called CORE before, so I'm not worried about that.

 

Has anyone had a bad reaction when starting the Methylfolate, or any experience with Methly Guard? Thanks all!! I started the hi does D3 and the anti inflamatories a couple days ago (circummin, yucca and green tea) ..and I'm thinking of starting the Methyl Guard tomorrow. We are going on vacation next week, and I'd so LOVE to have him in an improved mood.

 

Will it work that fast?

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Just read post by LLm on the CBS - and another gene mutation that can cause problems when Methylfolate introduced...hmmm, LLM do you happen to know what % of population ahs that one? I dunno if I want to wait for more testing to start the mFolate!

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DS is compound heterozygous. We did other testing through blood and urine. He totally lacked tryptophan! He was placed on methyl b12 shots three days a week, plus methyl folate, b6, p5p, alpha lipoid acid, interphase plus and a new vitamin from kirkman. We continues the d, omega 3, c,e. I was told to start one thing at a time, wait a week and start the next thing. I did not work up to the dose, just jumped right in and I did not see any reactions.

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Just read post by LLm on the CBS - and another gene mutation that can cause problems when Methylfolate introduced...hmmm, LLM do you happen to know what % of population ahs that one? I dunno if I want to wait for more testing to start the mFolate!

I don't know what the percentage is - but really, odds/percentages don't matter. Only your unique results matter when it comes to knowing if something will be "good" or "bad". Last year, 23andMe was still too pricey for me to consider (they only dropped the price in december). So I started by only treating MTHFR. They tell you this is a big no-no of you have CBS+ and I understand why. But...in real life, with a crazy child in your house, you do what you can. Ideally, you'll eventually find out if you have CBS and you'll have much more custom info to use in your decision making. But sometimes you need to do the best with what you've got and help a child in crisis. What I'd do, knowing what I know now, is I'd look at the list of good/bad supps if you have CBS http://www.heartfixer.com/AMRI-Nutrigenomics.htm#CBS:%C2%A0%20Cystathionine%20Beta%20Synthase and either avoid those things or use them in low doses. I gave my DD Core for several months - turns out this was a bad thing, as she has lower tolerance for P-5-P and I also gave her a multivitamin for years - also a bad thing since it had regular B6, regular folate, regular B12....but while it probably added to her burden, it was in low enough doses that she still managed to function. So yes, you'll screw up. But I'm not sure it means you should do nothing. Just be cautious and slow. (interestingly, DD always whined about having to take Core - said it tasted bad - I should've listened to her).

 

Likewise, we can all give our experiences of whether you should jump in at full dose or build up. But your child's experience is the only one that matters. I think building up is wise for only one reason. Let's say your magic "sweet spot" dose is 400mcg. The only way you'll ever know that is to cross the line and dose at say, 800 mcg, - see a bad reaction, and back down to the dose just before the bad reaction.

 

You can find this sweet spot by starting at 100mcg - no change.

Then 200 mcg a little improvement

400mcg - nice stuff happens

800mcg - bad stuff

back to 400 - nice stuff.

 

Or you can start at 800 - but if you see bad stuff, is it because it's made no change from the h**l you're already in, so you need more? Or is it because your starting dose is too high and you need to back down? Jumping in at a "typical" treatment dose doesn't let you know if you need to go up or down if you don't happen to see the good stuff you're hoping for. The advantage of starting low is that you can only move in one direction - up. And then you can assess whether an increase is good or bad. JMO - having screwed it up in my own home and having to stop completely for a week to drain the swamp and start over at a low dose (67mcg) which turned out to be my daughter's sweet spot (not the 400mcg I started with).

 

It's for this reason that I'd suggest using separate supplements and not methylguard to begin with. You're better able to tweak the dose of each ingredient separately and then maybe later, once you know your sweet spots, see if you can find a combo product that suits your needs. I've found thorne, holistic health (Yasko's co.) and source naturals to be my best sources - often in liquids while groping around for that ideal dosing (drops allow better control while titering up)

Edited by LLM

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If I may be permitted to jump into this conversation, my suggestion is to read whatever you can find from Richard vonKonynenburg (R.I.P.) http://forums.phoenixrising.me/index.php?threads/documents-by-rich-van-konynenburg-parts-1-7.11488/ His later work was spent in explaining methylation defects as it applied to autoimmune problems and Lyme Disease.

 

I was fortunate to have communicated with him late last summer, shortly before his untimely death. He helped explain DD's 23andme genetics with some other test results we had.

 

One of the things Rich pointed out was that the effects of the CBS mutation wasn't set in stone, as DD had some other mutations that could be influencing factors. So it isn't enough to say that this genetic aberration does this, and that one does that. He suggested further labwork to better get a handle on what effects the methylation block was having, and finding out how good or bad her digestive health is. Correcting digestive issues comes first, as that is a major key to correcting the other issues.

 

Once digestive issues had been corrected, then we could start his simplified methylation protocol. He also wrote:

On the methylation treatment, it's important not to go too high on the
dosages of methylfolate and methyl B12 when used together, because this can remove control of the rate of
the methylation cycle from the cells themselves, and this cycle can become overdriven, with the result that
there is not enough flow of homocysteine into the transsulfuration pathway to make cysteine, and hence
glutathione. Glutathione is prevented from recovering normal levels in this situation. So I would suggest
starting with the dosages of methylfolate and B12 that are in the protocol, and if you get a response, not going
too much higher. If there's no response, it will be necessary to raise the methyl B12 level, but using several
milligrams of methylfolate together with several milligrams of methyl B12 per day is too much, in my opinion,
based on test results I have seen from people who have done this.

Rich also said to watch for low potassium levels as the methylation block lifts. Adding in additional potassium (bananas, orange juice) to the diet could help.

 

~Orion

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If I may be permitted to jump into this conversation, my suggestion is to read whatever you can find from Richard vonKonynenburg (R.I.P.) http://forums.phoenixrising.me/index.php?threads/documents-by-rich-van-konynenburg-parts-1-7.11488/ His later work was spent in explaining methylation defects as it applied to autoimmune problems and Lyme Disease.

 

I was fortunate to have communicated with him late last summer, shortly before his untimely death. He helped explain DD's 23andme genetics with some other test results we had.

 

One of the things Rich pointed out was that the effects of the CBS mutation wasn't set in stone, as DD had some other mutations that could be influencing factors. So it isn't enough to say that this genetic aberration does this, and that one does that. He suggested further labwork to better get a handle on what effects the methylation block was having, and finding out how good or bad her digestive health is. Correcting digestive issues comes first, as that is a major key to correcting the other issues.

 

Once digestive issues had been corrected, then we could start his simplified methylation protocol. He also wrote:

On the methylation treatment, it's important not to go too high on the

dosages of methylfolate and methyl B12 when used together, because this can remove control of the rate of

the methylation cycle from the cells themselves, and this cycle can become overdriven, with the result that

there is not enough flow of homocysteine into the transsulfuration pathway to make cysteine, and hence

glutathione. Glutathione is prevented from recovering normal levels in this situation. So I would suggest

starting with the dosages of methylfolate and B12 that are in the protocol, and if you get a response, not going

too much higher. If there's no response, it will be necessary to raise the methyl B12 level, but using several

milligrams of methylfolate together with several milligrams of methyl B12 per day is too much, in my opinion,

based on test results I have seen from people who have done this.

Rich also said to watch for low potassium levels as the methylation block lifts. Adding in additional potassium (bananas, orange juice) to the diet could help.

 

~Orion

That link didn't work for me. Can you post a new one?

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Try this link http://forums.phoenixrising.me/index.php?threads/documents-by-rich-van-konynenburg-parts-1-7.11488/ It seems identical to the one orion posted but it didn't work for me either. It looks like that one might have a space at the end of the link and maybe that's what was causing it to fail.

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