Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

Synonyms: ASL Deficiency, Argininosuccinate Acidemia, Inborn Error of Urea Synthesis, Arginino Succinic Type, Asauria, Arginosuccinase Deficiency, ASA Deficiencies, Deficiency, Arginino Succinase, ASA Deficiency, Deficiencies, Argininosuccinate Lyase, Arginino Succinase Deficiency, Acidemia, Argininosuccinate, Argininosuccinic Acidurias, Aciduria, Argininosuccinic, Urea Cycle Disorder, Arginino Succinase Type, Argininosuccinic Acidemia, Argininosuccinic Aciduria, Argininosuccinicaciduria, Argininosuccinic Acid Lyase Deficiency, Deficiency, Argininosuccinate Lyase, Argininosuccinase Deficiency, Deficiencies, Arginino Succinase, Argininosuccinate Lyase Deficiencies, Argininosuccinate Lyase Deficiency, ASL Deficiencies, Acidurias, Argininosuccinic, Deficiencies, ASA, Acidemias, Argininosuccinate, Arginino Succinase Deficiencies, Deficiency, ASL, Deficiency, ASA, Argininosuccinyl-Coa Lyase Deficiency, Argininosuccinate Acidemias, Deficiencies, ASL, Argininosuccinicacidurias