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.
synonyms:
N-acetylglutamate synthetase deficiency,
237310,
NAG synthetase deficiency,
N-acetyl glutamate synthetase deficiency,
GARD:7158,
ORDO:927,
OMIM:237310,
NAGS deficiency,
hyperammonemia due to N-acetylglutamate synthase deficiency
