Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > argininosuccinic aciduria
argininosuccinic aciduria
MIM.207900 7cen-q11.2
Thursday 25 September 2008
Definition: Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle.
Etiology
argininosuccinic aciduria is caused by mutation in the gene encoding argininosuccinate lyase (ASL) (MIM.608310).
See also
urea cycle diseases
Nota bene: Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (MIM.311250), carbamyl phosphate synthetase deficiency (MIM.237300), argininosuccinate synthetase deficiency, or citrullinemia (MIM.215700), argininosuccinate lyase deficiency, and arginase deficiency (MIM.207800).
