Hyperammonemia due to N-acetylglutamate synthase deficiency

Definition

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

Also known as hyperammonemia due to N-acetylglutamate synthase deficiency, NAGS deficiency — per MONDO

Also identified as

• DOID 0112258 per MONDO
• MESH C536109 per MONDO
• NCIT C129307 per MONDO
• OMIM 237310 per MONDO
• Orphanet 927 per MONDO
• SCTID 57119000 per MONDO
• UMLS C0268543 per MONDO