N-acetylglutamate synthase deficiency (DOID:0112258)
Alliance: disease page
Synonyms: hyperammonemia due to N-acetylglutamate synthase deficiency; N-acetyl glutamate synthetase deficiency; N-acetylglutamate synthetase deficiency; NAG synthetase deficiency; NAGS deficiency
Alt IDs: OMIM:237310, ORDO:927
Definition: A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.