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How bad are these MTHFR mutations?


cara615

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I sent the report to Bradstreet but was wondering if these mutations were particularly worrisome. I see he has 2 heterozygous CBS mutations and I have been giving him NAC daily for over a year (sigh)

 

VDR Bsm rs1544410 TT +/+

MAO-A R297R rs6323 TT +/+

MTHFR C677T rs1801133 AG +/-

MTR A2756G rs1805087 GG +/+

MTRR A66G rs1801394 AG +/-

BHMT-08 rs651852 TT +/+

CBS C699T rs234706 AG +/-

CBS A360A rs1801181 AG +/-

 

Thanks in advance!

Edited by cara615
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This is what I have learned so far:

 

VDR bsm +/+ he may not need Vit D3 because he may have enough already converted into D1,25

 

MAO-A R297R +/+ slow breakdown of seratonin. This explains the high levels of seratonin in his blood work.

 

BHMT 08 +/+ this converts homocystiene into methionine and can affect attention and stress levels

 

MTR A2756G +/+ this also converts homocytiene into methionine and indicates the need for methyl B12

 

MTRR A66G +/- needs more methyl B12

 

MTHFR C677T +/- elevated homocystiene and risks for heart disease and stroke among others

 

CBS C699T +/- and CBS A360A +/- limits homocystiene into downstream path and does not handle sulfur based supps well.

 

 

So now to process this! I need to remove the NAC and possibly the Vit D3. Start giving him methyl B12 (I already do but may need a better brand or dose). But what else..... hoping Bradstreet will weigh in.....

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CBS should be treated first - absolutely stop the NAC and restrict sulfurs like garlic, quercetin, sulfa abx...Now, personally, I don't think restricting all proteins from kids is a good idea. So taking molybdenum (150mcg daily or a little higher depending on diet) can help. Some people pee on sulfur stips to monitor levels. I just go by the smell of the urine. If it has an acidic or sulfur smell, I take some molybdenum and if it's still there, I take an extra moly dose.

 

Then move on to MTHFR - I highly recommend using Yasko's liquid methylfolate rather than any capsule. The capsules start at 400mcg and some kids need a much lower dose than that. The liquid drops allow you to start at one drop (67mcg) and build up slowly until you find the sweet spot. Here's the product: http://www.holisticheal.com/methylmate-b-nutritional-supplement.html

 

You also need to give B12 daily along with the methylfolate but don't assume Methyl B12 is best. Some people feel best on methylB12 and others prefer hydroxyB12. You need to do a trial and see which makes him feel better. For methylB12, I like http://www.amazon.com/Source-Naturals-MethylCobalamin-Flavored-Sublingual/dp/B001G7R8J2/ref=sr_1_1?s=hpc&ie=UTF8&qid=1411676324&sr=1-1&keywords=source+naturals+methylcobalamin+vitamin+b-12 and for hydroxyB12 I like http://www.amazon.com/Perque-Activated-Guard-trade-lozenges/dp/B006UKGDOQ/ref=sr_1_1?s=hpc&ie=UTF8&qid=1411676366&sr=1-1&keywords=perque

 

My kids find it hard to keep the tablet under their tongues w/o playing with it while it dissolves. But if you swallow it or dissolve it and then drink it, it doesn't do much good. My DD's B12 blood levels only moved up once she learned to let is dissolve sublingually.

 

For MAO - My understanding is that MAO mutations inhibit/down regulate MAO. Copper can make MAO run a little faster (upregulate). But I've had someone on FB argue with me that the MAO mutation means you're already running fast. That goes against what little research I've been able to find and I find copper helps my DS who has an MAO mutation. But do your own research. I'd hate to steer you wrong. I also believe that if you have MAO, you should avoid and MAO-I antidepressant and any OTC cold meds/cough meds that carry a warning to note take if you're on an MAO-I - since these OTC meds work the same way as an MAO-I and you'd be compounding the problem. Do test copper levels first if you decide to try it. Copper/zinc are ying/yang and both play an important role in neurotransmitter regulation. Zinc is also important to the immune system, so you need balance between these two minerals.

 

I don't treat my family's MTR and MTRR issues directly, They just get helped by the things we do for MTHFR and from taking B12 (two of us use hydroxyB12 ans two take methylB12).

 

You're right on the Vitamin D - he may not need extra. But if you live in a northern climate, he may still benefit from a lower dose of D3 (e.g. 1000 IUs) either daily or a few times/week. D3 is really important for immune strength and for sleep. You can test thru blood work and decide from there.

 

These are my go to resources:

http://www.heartfixer.com/AMRI-Nutrigenomics.htm (scroll down below the diagram - it's a 50 pg document)

and

http://dramyyasko.com/wp-content/uploads/2012/01/Autism-Pathways-to-Recovery.pdf

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llm - i can't begin to thank you enough for taking the time and including detailed explanations as well as links. You ROCK. Seriously.

 

i have stopped the NAC now (DS is psyched!) and I hear you on the animal proteins. I was thinking of possibly adding something like Yucca to get rid of excess ammonia (which I know he has). But he does need his proteins from animals - he is 6 and growing boy!

 

I'll let you know what Bradstreet has to say about this as well. But I am going to check out those vitamins you suggested.

 

THANK YOU :)

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Yucca is estrogenic - not something I think any child or woman should be taking IMHO. I don't recall if different parts of the plant vary in their estrogen properties and maybe some parts are safe. But when I came across that tidbit, I scratched off my list of things to consider. Again, double check my rsearch. It's been awhile since I was waist deep in this stuff. But wanted to flag it for you.

 

Better to restrict (not necessarily eliminate) as many sulfur sources of intake as you can and support the body in other ways. I've taken to not only researchng the pros of a supplement but also the cons. When I took NAC for 3 months before I cound I was CBS+/-, I became depressed and couldn't figure out why. As part of a routine physical, my dr found my liver panel was way high. I stopped the NAC, my depression lifted and my liver panel came back to well within normal - all within a month. No matter how many good things NAC does, it wasn't right for me. So now I try to know the good, bad and ugly.

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I am not sure how much copper can change in 1 year but he had it tested last year and he was normal. Funny thing is that his ammonia levels were normal too last year.

 

i am surprised that they were base don his mutations and how much homocystiene he probably has in his body.

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  • 1 month later...

no, you should not ask your dr to do mthfr analysis. there is 23 and me, costs $99 and does not requrire prescription.

we can't take NAC or anything sulphur because of our mutations. so, yes, in some cases, NAC though it would have some positive effects would also have negative ones.

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What kind of reaction would you see if you gave your child a supplement that they couldn't handle? Anything from a gradual increase or worsening of symptoms, to the inability to get well completely, like something is holding you back? Or the onset of new symptoms? Of course it depends on the mutation, I realize. I think we need to buckle down and do the 23 and me. :P

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What kind of reaction would you see if you gave your child a supplement that they couldn't handle? Anything from a gradual increase or worsening of symptoms, to the inability to get well completely, like something is holding you back? Or the onset of new symptoms? Of course it depends on the mutation, I realize. I think we need to buckle down and do the 23 and me. :P

In case of NAC, we would see, first, improvement. It would last for several days, perhaps a week. then, we would see sudden worsenning, an exacerbation, that would stop right after we stop NAC or anything with sulphur. we would not see appearence of any new symptoms. it took me until we got 23andMe results back to figure out that it was sulphure.

we tried NAC on four or five different ocassions and had the same pattern each time.

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