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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2000-7-31
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0364-5134
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
121-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10894227-2-Aminoadipic Acid,
pubmed-meshheading:10894227-Child,
pubmed-meshheading:10894227-Epilepsy,
pubmed-meshheading:10894227-Humans,
pubmed-meshheading:10894227-Infant, Newborn,
pubmed-meshheading:10894227-Male,
pubmed-meshheading:10894227-Picolinic Acids,
pubmed-meshheading:10894227-Pipecolic Acids,
pubmed-meshheading:10894227-Pyridoxal Phosphate,
pubmed-meshheading:10894227-Pyridoxine
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pubmed:year |
2000
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pubmed:articleTitle |
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
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pubmed:affiliation |
Department of Pediatrics, University Hospital, Graz, Austria.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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