Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

被引：23

作者：

Lundy, Claire T. ^{[2
]}

Jungbluth, Heinz ^{[2
,5
]}

Pohl, Keith R. E. ^{[2
]}

Siddiqui, Ata ^{[3
]}

Marinaki, Anthony M. ^{[4
]}

Mundy, Helen ^{[1
]}

Champion, Michael P. ^{[1
]}

机构：

[1] Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Inherited Metab Dis, London, England

[2] Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Paediat Neurol, London, England

[3] St Thomas Hosp, Dept Neuroradiol, London SE1 7EH, England

[4] St Thomas Hosp, GSTS Pathol, Purine Res Lab, London SE1 7EH, England

[5] Kings Coll London, IOP, Clin Neurosci Div, London WC2R 2LS, England

来源：

PEDIATRIC NEUROLOGY | 2010年 / 43卷 / 05期

关键词：

MUTATION; PURINE;

D O I：

10.1016/j.pediatrneurol.2010.06.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condition is important, because prenatal genetic diagnosis can be offered to affected families. Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder. (C) 2010 by Elsevier Inc. All rights reserved.

引用

页码：351 / 354

页数：4

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