N-Acetylglutamate Synthase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - NAGSD