2j91

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

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Adenylosuccinate lyase 3D structures