Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe psy
β¦ LIBER β¦
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations
β Scribed by Chen, Bee Chin; McGown, Ivan N.; Thong, Meow Keong; Pitt, James; Yunus, Zabedah M.; Khoo, Teck Beng; Ngu, Lock Hock; Duley, John A.
- Book ID
- 125356648
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 120 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0141-8955
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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