Term Name:	N-acetylglutamate synthase deficiency
Synonyms:	hyperammonemia due to N-acetylglutamate synthase deficiency, N-acetyl glutamate synthetase deficiency, N-acetylglutamate synthetase deficiency, NAG synthetase deficiency, NAGS deficiency
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.
Ontology:	Human Disease [DOID:0112258]   ( DOID:0112258 )