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Re: Dopa-responsive Dystonia

Posted by linkadge on July 24, 2020, at 19:30:00

In reply to Dopa-responsive Dystonia, posted by pixel8mbb on July 23, 2020, at 23:12:24

Wow.

That's a very interesting story. Many of us like have (different) disruptions in genes which code for a variety of different neurotransmitters, receptors, neuromodulators, ion channels etc. I don't know anything about this disorder specifically. However, doing a little bit of reading:

BH4 is a cofactor in the following processes needed to make neurotransmitters:

https://www.snpedia.com/index.php/Tetrahydrobiopterin

"BH4 is a cofactor in the following processes needed to make neurotransmitters
Conversion of Phenylalanine to Tyrosine by the Phenylalanine Hydroxylase (PAH) Gene
Conversion of Tyrosine and vitamin B6 to L-DOPA by the Tyrosine Hydroxylase (TH) Gene
Conversion of Tryptophan and vitamin B6 to 5-HTP by the Tryptophan Hydroxylase (TPH1) Gene"

This would suggest that supplementation of tyrosine, l-dopa, and 5-htp might help offset some of the mood symptoms. Tryptophan probably wouldn't help (5-htp would be needed). As far as the ratios, that could be very tricky, but you could go based on mood response. They also suggest supplementation with folate. I don't know if folate would be better or worse than methylfolate. You might also get tested for the methylfolate gene (this could indicate if methylfolate would work better). Apparently you can buy BH4 directly, but it is not widely available. This might be the best solution. Other supplements may include NADH. However, I know very little about this, so you'd need to seek other information / opinions.

Do keep us informed about what helps. I would be VERY interested.

Linkadge


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