Argininosuccinic Aciduria

**Definition:** 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.

**Tree numbers:** - C10.228.140.163.100.937.124 - C16.320.565.100.940.124 - C16.320.565.189.937.124 - C18.452.132.100.937.124 - C18.452.648.100.940.124 - C18.452.648.189.937.124

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