| Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. | |
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MedLine Citation:
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PMID: 23419474 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Although pyridoxine-dependent seizures have been reported for decades, pyridoxamine phosphate oxidase deficiency has only been recently described. Pyridoxamine phosphate oxidase (PNPO) is one of a series of enzymes involved in converting pyridoxine to pyridoxal 5'-phosphate, the biologically active form of pyridoxine. PNPO deficiency is associated with decreased levels of pyridoxal 5'-phosphate in CSF, as well as epilepsy. We describe four children up to 16 years of age with intractable seizures who all had low cerebrospinal fluid (CSF) levels of pyridoxal 5'-phosphate. Only one of the four children possessed a genetic alteration, a novel homozygous variant in exon one of the PNPO gene. Three of four, however, showed at least some clinical improvement with pyridoxal 5'-phosphate supplementation. Low CSF pyridoxal 5'-phosphate levels, although considered a diagnostic biomarker for PNPO deficiency, lack specificity and may result from multiple other causes. Genetic testing and CSF evaluation, along with clinical response are all necessary for accurate diagnosis. |
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Authors:
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Monisha Goyal; Pierre R Fequiere; Tony M McGrath; Keith Hyland |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 48 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2013 Mar |
Date Detail:
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Created Date: 2013-02-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 227-31 Citation Subset: IM |
Copyright Information:
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Copyright © 2013 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Pediatric Neurology, University of Alabama, Birmingham, Alabama. Electronic address: mgoyal@peds.uab.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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