Genetic basis of adenylosuccinase deficiency in an Italian patient

Abstract

Adenylosuccinase (EC 4.3.2.2; ASase) deficiency is an autosomal recessive disorder that results in the accumulation in body fluids of two normally undetectable compounds, succinylaminoimidazole carboxamide (SAICA) riboside and succinyladenosine (S-Ado). These succinylpurines are the products of dephosphorylation, by cytosolic 5′-nucleotidase, of the two substrates of the defective enzyme.1–3 The inherited defect has been diagnosed in a small group of patients of different nationalities with psychomotor retardation and autistic features.