Argininosuccinic Aciduria


ASA Deficiencies

ASA Deficiency

ASL Deficiencies

ASL Deficiency

Acidemia, Argininosuccinate

Acidemias, Argininosuccinate

Aciduria, Argininosuccinic

Acidurias, Argininosuccinic

Arginino Succinase Deficiencies

Arginino Succinase Deficiency

Argininosuccinase Deficiency

Argininosuccinate Acidemia

Argininosuccinate Acidemias

Argininosuccinate Lyase Deficiencies

Argininosuccinate Lyase Deficiency

Argininosuccinic Acid Lyase Deficiency

Argininosuccinic Acidemia

Argininosuccinic Acidurias



Argininosuccinyl-Coa Lyase Deficiency

Arginosuccinase Deficiency


Deficiencies, ASA

Deficiencies, ASL

Deficiencies, Arginino Succinase

Deficiencies, Argininosuccinate Lyase

Deficiency, ASA

Deficiency, ASL

Deficiency, Arginino Succinase

Deficiency, Argininosuccinate Lyase

Inborn Error of Urea Synthesis, Arginino Succinic Type

Urea Cycle Disorder, Arginino Succinase Type

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.