PYRIDOXINE-DEPENDENT SEIZURES, CLINICAL AND THERAPEUTIC ASPECTS

被引:63
作者
HAENGGELI, CA
GIRARDIN, E
PAUNIER, L
机构
[1] Department of Paediatrics, Hôpital Cantonal Universitaire, Geneva, CH-1211, 30, Bd de la Cluse
关键词
PYRIDOXINE-DEPENDENT SEIZURES; VITAMIN-B6;
D O I
10.1007/BF01958419
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. Treatment requires life-long supplementation with pyridoxine (vitamin B6). The underlying defect is unknown, and there is no biological marker for the disease. Clinical diagnosis is often delayed and severe neurological sequelae are common. This article summarizes both clinical and therapeutic aspects.
引用
收藏
页码:452 / 455
页数:4
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