Adenylosuccinate lyase deficiency: An unusual cause of neonatal seizure

被引：0

作者：

Clamadieu, C. ^{[1
]}

Cottin, X. ^{[1
]}

Rousselle, C. ^{[2
]}

Claris, O. ^{[1
]}

机构：

[1] Ctr Hosp Lyon Sud, Serv Neonatol, F-69495 Pierre Benite, France

[2] Hop Debrousse, Serv Neuropediat, F-69005 Lyon, France

来源：

ARCHIVES DE PEDIATRIE | 2008年 / 15卷 / 02期

关键词：

D O I：

10.1016/j.arcped.2007.08.028

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Adenylosuccinate lyase deficiency is an autosomal recessive inborn error of purine synthesis, which provokes epilepsy, psychomotor delay and/or autistic features. We report on two siblings with ADSL deficiency, who developed seizures on the first day of life. ADSL deficiency should be part of the screening to be performed in case of neonatal seizures. (C) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：135 / 138

页数：4

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