Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine‐dependent epilepsy
- 1 July 2000
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 48 (1) , 121-125
- https://doi.org/10.1002/1531-8249(200007)48:1<121::aid-ana20>3.3.co;2-m
Abstract
Diagnosis of pyridoxine‐dependent epilepsy is based on 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. Ann Neurol 2000;48:121–125Keywords
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