Structural highlights
Disease
PUR8_HUMAN Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM:103050. ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.
Function
PUR8_HUMAN
See Also
