Title : Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.

Pub. Date : 2021 Jun

PMID : 33763330






1 Functional Relationships(s)
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1 We then suspected n-acetylglutamate synthase or carbamoyl-phosphate synthase I deficiency due to marked hyperammonemia, elevated glutamine level, normal orotic acid, and normalization of ammonia at 2 h of carglumic acid (200 mg/kg/d). Glutamine N-acetylglutamate synthase Homo sapiens