label: N-Acetylglutamate Synthase Deficiency
label_lc: n-acetylglutamate synthase deficiency
description: An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma.