Article
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Human mutation - 1 Jan 1999
Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola E Z, Gu X X, Legius E, Vincent M F, Jaeken J, Cassiman J J, Van den Berghe G
Abstract excerpt
The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less...
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