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

页码：121 / 125

页数：5

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