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MTHFR positive!


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One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

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Can you please tell me laboratory and name of MTHFR test? I really want to get it for my DS. Thanks.

One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

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Can you please tell me laboratory and name of MTHFR test? I really want to get it for my DS. Thanks.

One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

 

 

Quest. They found one of the 2 positive. Since it's genetic, and I know it affects methylation, and the heart (and he does have a genetic heart condition, and there's hx of heart disease on both sides,) I want to know what next.

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My DS14 and I test compound heterozygous for mutations C677T and A129C on the MTHFR gene. I cannot explain it well, but it puts us at much higher risk for developing cardiac disease (among other issues) because we do not "methylate" well. I know some others will chime in with much better explanations of methylation issues. LLM always explains things concisely on this topic.

 

My son and I take Methyl B12 supplements 3x/week (I take injectable, he takes compounded sublingual liquid).

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Not sure where you read it's rare. From everything I've read, the C677 mutation is one of the most common mutations of this gene.

 

The most well-studied polymorphism related to the risk of neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T). This variant, which is relatively common in many populations worldwide, produces a form of methylenetetrahydrofolate reductase that has reduced activity at higher temperatures (thermolabile). People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood. http://ghr.nlm.nih.gov/gene/MTHFR

 

I doubt it has any relevance in the Pandas community vs any other community. It's not a "cause". However, it can play a role in the body's reduced ability to make seratonin and/or dopamine because it interferes with efficient methylation. In that respect, it may be one of those predisposing factors to the neuropsych symptoms. it also plays a big role in increasing your risks for heart disease, strokes and macular degeneration.

 

The treatment is to take methylfolate. Thorne sells it and at least one other company. We buy it here:

http://www.amazon.com/Thorne-Research-5-MTHF-5-Methyltetrahydrofolate-60s/dp/B001PLESO2/ref=sr_1_1?ie=UTF8&qid=1328620665&sr=8-1

 

lfran - you can get the test from any commercial lab - quest, labcorp, etc. Covered by insurance. Our cost was $50, but we'd met our deductible, so $10 out of pocket. The name is MTHFR. This is Quest's test http://www.questdiagnostics.com/hcp/testmenu/jsp/showTestMenu.jsp?fn=36165.html&labCode=NEL

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For this, I have taken Thorne's 5-MTHF, see below. I wouldn't think that methyl-B12 would get at the heart of this, as I understood it is a problem with processing of folate. The MTHRF stands for methylenetetrahydrofolate reductase, again relating to processing folate. I know there are many other supplements targeting this issue, some containing additional items like methyl-B12 and/or TMG (trimethylglycine?). I see why these additional items could help in restoring balance when starting out with 5-MTHF, but not sure why they would be needed long-term once balance is restored.

 

http://www.iherb.com/Thorne-Research-5-MTHF-1-mg-60-Veggie-Caps/18447?at=0

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Both my DS14 and DD12 take Thorne's Methyl-Guard 1x/day. They took it 3x/day for the first month of usage.

 

 

 

Can you tell me why they took it? My son has low homocystiene levels, and everything that I've read inicates taking the Methyl-guard to bring it down, not up. Does anyone know if this just regulates the homcysteine levels either way?

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Both my DS14 and DD12 take Thorne's Methyl-Guard 1x/day. They took it 3x/day for the first month of usage.

 

 

Thank you everyone. It's the 677T gene that is mutated in my DS, and I guess now the rest of us should get tested (DH has serious heart disease in his family, and he even had a mitral valve replacement last year.) DS16 and I both take methylcobalamin, and I guess I should give it to DS19? If so, how much? The sublingual pills I have are 1000 mg. I take 2 per day. LLMD wanted me to do shots, because my B12 levels were extremely low, but I had an allergic reaction to the shots (probably the protein that they "laced" it with <_< ) So, I've been taking 2000 mg per day, but have no idea if it's even helping.

 

Then again, DS16 and I do still keep getting sick. We've been detoxing (every day when I can remember in time), but we are still by far the sickest.

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OK, at the risk of sounding really stupid, I have to tell you I don't know exactly why my children are taking Methyl Guard other than the fact that my doctor tells me to give it to them (and they both have MTHFR mutations - see my earlier post). I am on overload and don't always ask the doc specifics about her recommended supps. Nor do I know if it helps since we have added so many things in simultaneously in the last 9 months of treatment.

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OK, at the risk of sounding really stupid, I have to tell you I don't know exactly why my children are taking Methyl Guard other than the fact that my doctor tells me to give it to them (and they both have MTHFR mutations - see my earlier post). I am on overload and don't always ask the doc specifics about her recommended supps. Nor do I know if it helps since we have added so many things in simultaneously in the last 9 months of treatment.

 

 

:P I TOTALLY get it. That's why I'm trying to figure this out. Our holistic chiropractor did muscle testing, and found they needed it, but I didn't know at least one of them has MTHFR. Maybe he just picked up on it, and took care of it? But, for those of you who do know (maybe llm?) how do you know if your getting enough?

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When the MTHFR gene mutation is present, I would think supplementation to bypass the kink in the loop would be lifelong and not something that you can fix or restore because your genes aren't to change. We are also using the Thorne MTHR and will have the testing run in a couple weeks.

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LSS- if your son is low in homocysteine, who suggested the methylguard and why? I would think methylguard would be only for people who are having trouble either with energy or with high homocysteine, not low homocysteine. Or if you had a mutation on the MTHFR gene...

 

TPotter, methylfolate is the thing you need to add. B12 is also important, especially if you already know you're low. But as far the the MTHFR gene - it only tells you that the C677 mutation is impairing your body's ability to convert folate into methylfolate. It has nothing to do with how your body is or isn't using B12.

 

This is a really good overview of the issue:

http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm

I recommend reading the whole thing - it gives a good explanation of the role elevated homocysteine plays in heart disease etc. But the answer to your specific question is here:

 

The MTHFR C677T gene polymorphism is the single most important genetic determinant of blood homocysteine values in the general population. More than 40% of Hispanics and between 30-38% of whites living in the U.S. inherit at least one copy of this gene (Botto 2000),which impairs their ability to fully activate (methylate) folic acid to 5-methyltetrahydrofolate, the bioactive form of the B vitamin. Individuals who inherit this gene variant from both parents have a significantly higher (14-21%) risk of vascular disease than those who do not.

 

For this affected group, taking the bioactive folate supplement, 5-MTHF, may be a better strategy. 5-MTHF is clinically tested, is highly bioavailable (Willems 2004), can cross the blood-brain-barrier (Weir 1999), and is unlikely to mask a vitamin B12 deficiency as folic acid can do (Venn 2002). Those who carry this gene variant can safely reduce their risk of homocysteine-related health problems using an inexpensive, nonprescription natural folate supplement.

 

As I understand it, homocysteine can be broken down in one of two ways - it can be recycled back into the methylation cycle with methylfolate + B12 (called re-methylation) or it can be transformed (with B6 and CBS) into glutathione, which is the King of all anti-oxidants (this second transformation of bad homocysteine into something good is part of the trans-sulfuration cycle and is critical for detox).

 

So there are three possible things that can happen to homocysteine.

1. It can be remethylated via methylfolate + B12 (methylcobalmin)

2. It can be transformed into glutathione via CBS + B6 or

3. It can accumulate and remain unconverted (due to clogs in either 1 and/or 2) and elevate your risks of heart disease, stroke, etc.

 

Note - if you have KPU, you have a genetic obstacle in keeping enough B6 in your body (too many pyroles will bind to your zinc and B6 and cause you to pee it out before it gets used as part of trans-sulfuration), resulting in less glutathione, reduced detox ability and more damage from oxidative stress.

 

So it's technically not all "methylation" but it's all related. It's not a matter of just adding more of one thing. It's finding balance and making sure all the cycles and chain reactions have sufficient raw materials in bioavailable forms.

 

Tpotter - you mention you guys are still sick frequently. I'd ask your doctor about zinc and certainly pursue the KPU aspect. Zinc is the ammunition of the immune system - the bullets. Plus, when your body is diverting resources to fight a chronic infection, it may not have adequate raw materials to fuel the other processes that go on in the body. There are other essential vitamins, minerals and amino acids that come into play (e.g. Vitamin C etc) and inflammation to consider as well. There's a lot I don't understand about all of this and I'd certainly defer to your doctor's advice on what to take. It's a bit of trial and error and finding balance. And just when you get it right, something will change.

Edited by LLM
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