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

Chen, Bee Chin, McGowan, Ivan, Thong, Meow Keong, Pitt, James, Yunus, Zabedah M, Khoo, Teck Beng, Ngu, Lock Hock and Duley, John A. (2010) Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. Journal of Inherited Metabolic Disease, Online First : .

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Author Chen, Bee Chin
McGowan, Ivan
Thong, Meow Keong
Pitt, James
Yunus, Zabedah M
Khoo, Teck Beng
Ngu, Lock Hock
Duley, John A.
Title Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations
Journal name Journal of Inherited Metabolic Disease  (ERA 2012 Listed)    (ERA 2010 Rank B)   Check publisher's open access policy
Publication date 2010-02-23
Sub-type Article
Year available 2010
DOI 10.1007/s10545-010-9056-z
Volume number Online First
ISSN 0141-8955
Total pages 4
Place of publication Lancaster, England
Publisher Kluwer for the Society for the Study of Inborn Errors of Metabolism
Collection year 2011
Language eng
Formatted abstract Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe myoclonic jerk within the first few days of life and severe psychomotor retardation. The high performance liquid chromatography (HPLC) profile of the urine revealed the characteristic biochemical markers of succinyladenosine (S-Ado) and succinyl-aminoimidazole carboximide riboside (SAICAr). The urinary S-Ado/SAICAr ratio was found to be 1.02 (type I ADSL deficiency). The patient was compound heterozygous for two novel mutations, c.445C > G (p.R149G) and c.774_778insG (p.A260GfsX24).
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online: 23 February, 2010.

Document type: Journal Article
Sub-type: Article
Collections: Official 2011 Collection
School of Pharmacy Publications
 
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Created: Mon, 20 Dec 2010, 15:02:38 EST by Charna Kovacevic on behalf of School of Pharmacy