Sweet relief. I felt better as soon as I took arginine last night, and I'm already 50% improved.
I've been browsing through my research notes again, and realizing how much I still need to pull together. Genetic tests interpreted by an expert might tell me more (still waiting on a geneticist), but until then I'm collecting everything I can find about the mechanisms of UCDs, to try to ferret out what might be going on. There aren't a lot of broad sources, but the ones that are have a lot of dense info to comb through.
I want a differential to help narrow down the possibilities, basically a diagnostic key -- I haven't found a comprehensive one yet. I know that "individuals with OTC deficiency usually have both low levels of citrulline and high glutamine in the blood and high levels of orotic acid in the urine", and that orotic acid is the way to differentiate OTC from NAGS; I know that supplementing with arginine helps just about all UCDs, but that supplementing with citrulline (a slightly simpler, related amino acid) can be counterproductive in Argininosuccinate Lyase (ASL) and Argininosuccinate Synthase (ASS) deficiencies, where both of those show elevated citrulline levels in the urine but ALSD also has elevated argininosuccinic acid levels... I just want some kind of table so that I can run the yes/no paths and come up with a set of differential tests that would narrow it to one or two possibilities.
(Yes, I have done this kind of thing in a lab, and I do diagnostics in the field for my career.)
Why is such a thing not available? Who knows, perhaps it is to specialists. But it needs to be more widely available not just for wonks like me, but for general practitioners, pediatricians, and anybody else who might run into a UCD patient. We need fewer people in the dark.
I'll post a list of resources a bit later.
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