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

被引：7

作者：

Chen, Bee Chin ^{[1
]}

McGown, Ivan N. ^{[2
]}

Thong, Meow Keong ^{[3
]}

Pitt, James ^{[4
]}

Yunus, Zabedah M. ^{[5
]}

Khoo, Teck Beng ^{[6
]}

Ngu, Lock Hock ^{[7
]}

Duley, John A. ^{[2
,8
]}

机构：

[1] Kuala Lumpur Hosp, Dept Genet, Biochem Genet Unit, Jalan Pahang 50586, Malaysia

[2] Mater Hlth Serv, Dept Pathol, Brisbane, Qld, Australia

[3] Univ Malaya, Fac Med, Dept Pediat, Genet & Metab Unit, Kuala Lumpur, Malaysia

[4] Pathol Murdoch Childrens Res Inst, VCGS, Melbourne, Vic, Australia

[5] Inst Med Res, Div Biochem, Kuala Lumpur 50588, Malaysia

[6] Div Pediat Neurol, Kuala Lumpur, Malaysia

[7] Kuala Lumpur Hosp, Dept Genet, Div Clin Genet, Kuala Lumpur, Malaysia

[8] Univ Queensland, Sch Pharm, Brisbane, Qld, Australia

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷

关键词：

D O I：

10.1007/s10545-010-9056-z

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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).

引用

页码：S159 / S162

页数：4

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