abstract:Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma.Jaeken and Van den Berge, "Adenylosuccinate Lyase Deficiency", The Metabolic and Molecular Bases of Inherited Diseases, Vol.