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