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Austin Larson

Researcher

Jun 8, 2026

18:03
What would you advise for that?
18:06
Uh, yeah.
18:06
So, um, the first thing to say is that the most common metabolic disorder that causes hyperammonemia is ornithine transcarbamylase deficiency or OTCUm, on the boards, you'll read that's an X-linked condition, so you think about it in boys.
18:24
It turns out there's a lot of symptomatic females as well.
18:28
So, um, uh, it's still important to check ammonia in a female.
18:34
Um, you can't just think of that as a, as an X-linked and male disorder.
18:38
Um, the other thing to know about it is it's not on newborn screening, or for the states that do try to screen for it, the, the screening tests are not very good.
21:42
Excellent.

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