Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

被引：1
|
作者：
Plecko, B
Stöckler-Ipsiroglu, S
Paschke, E
Erwa, W
Struys, EA
Jakobs, C
机构：
[1] Univ Hosp Vienna, Dept Pediat, A-1090 Vienna, Austria
[2] Univ Hosp Graz, Dept Pediat, Graz, Austria
[3] Free Univ Amsterdam Hosp, Dept Clin Chem, Amsterdam, Netherlands
来源：
ANNALS OF NEUROLOGY | 2000年 / 48卷 / 01期
关键词：
D O I：
10.1002/1531-8249(200007)48:1<121::AID-ANA20>3.3.CO;2-M
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Diagnosis of pyridoxine-dependent epilepsy is based an the clinical response to high-dosage application of pyridoxine. Here, we report on 2 patients with pyridoxine-dependent epilepsy with significant elevation of pipecolic acid concentrations in plasma and cerebrospinal fluid (CSF) and further increase of pipecolic acid in CSF during a 72-hour pyridoxine withdrawal in 1 of them. Patients with non-pyridoxine-dependent epilepsy had normal pipecolic acid concentrations in plasma and significantly lower concentrations in CSF. High plasma and CSF pipecolic acid concentrations might provide a diagnostic marker in pyridoxine-dependent epilepsy.
引用
收藏
页码：121 / 125
页数：5
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