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.

Descriptor ID	D056807
MeSH Number(s)	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
Concept/Terms	Argininosuccinic Aciduria Argininosuccinic Aciduria Aciduria, Argininosuccinic Acidurias, Argininosuccinic Argininosuccinic Acidurias Argininosuccinate Acidemia Acidemia, Argininosuccinate Acidemias, Argininosuccinate Argininosuccinate Acidemias Argininosuccinate Lyase Deficiency Argininosuccinate Lyase Deficiencies Deficiencies, Argininosuccinate Lyase Deficiency, Argininosuccinate Lyase Argininosuccinic Acid Lyase Deficiency Urea Cycle Disorder, Arginino Succinase Type ASA Deficiency ASA Deficiencies Deficiencies, ASA Deficiency, ASA ASL Deficiency ASL Deficiencies Deficiencies, ASL Deficiency, ASL Argininosuccinase Deficiency Inborn Error of Urea Synthesis, Arginino Succinic Type Arginino Succinase Deficiency Arginino Succinase Deficiencies Deficiencies, Arginino Succinase Deficiency, Arginino Succinase Argininosuccinicaciduria Argininosuccinicacidurias

Below are MeSH descriptors whose meaning is more general than "Argininosuccinic Aciduria".

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