Argininosuccinic Aciduria


Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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