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Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

✍ 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