argininosuccinic aciduria

Rare Disease

MONDO:0008815

Also Known As

ASA deficiencyASL deficiencyargininosuccinase deficiencyargininosuccinatelyase deficiencyargininosuccinic acid lyase deficiencyargininosuccinic acidemiaargininosuccinic aciduriaarginosuccinase deficiencydeficiency of argininosuccinate lyasearginino succinase deficiencyargininosuccinate acidemiaargininosuccinate lyase deficiencyargininosuccinicaciduriainborn error of urea synthesis, arginino succinic typeurea cycle disorder, arginino succinase type

Definition

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.