Heterozygous A1298C mutation

[rowingmom]

Our LLMD has been treating DD11 with P-5-P B6 (30mg 3x/week), methyl B12 sublingual (1000ug BID), liposomal glutathione (250mg BID), and l-methylfolate (1000ug 3x/week). She started DD11 on these supplements when we began treatment with her. The LLMD was not surprised about the mutation and did not change the supplementation after the test came back positive.

[LNN]

For A1298C, your best bet is to wade thru a Yasko video (either the autism One video http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1- or something similar from YouTube).

 

Some docs assume that A1298C isn't so bad and doesn't need treatment. Yasko disagrees and supplements with BH4 - but I'm not sure where she gets it. It's very hard to obtain (prescription). I think she also recommends TMG - but make sure if you use this you don't buy TMG Betaine - apparently that's something different. Even Yasko is vague on how to treat this mutation. And finding articles is nearly impossible. You could consider a consult with Ben Lynch (www.mthfr.net) but I have no direct experience with him.

 

I think the supplements your LLMD is using are really helpful for detox. But I'd wonder about the need for l-methylfolate if you don't have a C677T mutation. That may be an unnecessary expense.

 

I wish I had better info for you. This is the "orphan" mutation but it seems like it may be a big deal for serotonin and dopamine utilization and I can't understand why it isn't better researched. I think your best bet is to wade thru the Yasko video. Sorry i can't be more help.

[rowingmom]

LLM - Do you use BH4, or have you tried it and what were the results? I have noticed it mentioned on a couple of autism forums, but no real discussion. Our LLMD also suggested DMG, but I saw a couple of postings somewhere about it reacting with nitrates (lots in vegetables)and possibly causing carcinogenic compounds. A wading I will go. Thanks.

[SSS]

My dd has double A1298C- it is hard to figure out what to do with it- our former very smart DAN! Dr. who originally tested for it, sort of shrugged it off.

 

1 thing about it, it may cause excess ammonia, which can be combated with Yucca root, or Nutrimedix Sparga tincture.

 

I believe Great Plains Oat test (urine) now tests for excess ammonia.

 

I have used some of Yasko's specific supps for A1298C, really saw no difference. I do know that if I try and supplement B-12 separately for her, very negative reaction.

[LNN]

LLM - Do you use BH4, or have you tried it and what were the results? I have noticed it mentioned on a couple of autism forums, but no real discussion. Our LLMD also suggested DMG, but I saw a couple of postings somewhere about it reacting with nitrates (lots in vegetables)and possibly causing carcinogenic compounds. A wading I will go. Thanks.

 

I have not used BH4 - I'm not even sure you can get it in the US. DD only has C677T issues, so I haven't had to wade into the unknowns of A1298C. Because she used to have GERD and GI issues, I did consider trying DMG/TMG but accidentally bought TMG Betaine, which I then read wasn't the same thing. I did a short trial but didn't see anything. Her gut issues resolved once we started giving (the right dose of) methylfolate to treat her C677T.

 

Sorry - I get so lost on nitrites vs nitrates and sulfates vs sulfites. I defer to Yasko, who definitely spends time on it but it wasn't the part of the video I made myself truly understand. I needed to save my brain power for the sections that dealt with my own house. It's a lot to try to comprehend.