| Pyridoxine-dependent seizures: a clinical and biochemical conundrum. | |
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MedLine Citation:
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PMID: 12686105 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Pyridoxine-dependent seizures have been recognised for 40 years, but the clinical and biochemical features are still not understood. It is a rare recessively inherited condition where classically a baby starts convulsing in utero and continues to do so after birth, until given pyridoxine. Many of these early onset cases also have an acute encephalopathy and other clinical features. Late onset cases are now recognised with a less severe form of the condition. Seizures can break through with intercurrent illness but otherwise remain controlled on pharmacologic doses of pyridoxine. The long-term outcome is affected by several factors including whether onset is early or late and how soon pyridoxine is given. Biochemical studies have been sparse, on very small numbers. There does not appear to be any defect in the uptake or metabolism of pyridoxine or pyridoxal phosphate (PLP). For a long time glutamic acid decarboxylase (GAD), a pyridoxal-dependent enzyme, has been suspected to be the abnormal gene product, but glutamate and gamma-aminobutyric acid (GABA) studies on the cerebrospinal fluid (CSF) have been contradictory and recent genetic studies have not found any linkage to the two brain isoforms. A recent report describes raised pipecolic acid levels in patients but how this ties in is unexplained. |
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Authors:
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Peter Baxter |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Biochimica et biophysica acta Volume: 1647 ISSN: 0006-3002 ISO Abbreviation: Biochim. Biophys. Acta Publication Date: 2003 Apr |
Date Detail:
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Created Date: 2003-04-10 Completed Date: 2003-06-05 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0217513 Medline TA: Biochim Biophys Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 36-41 Citation Subset: IM |
Affiliation:
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Ryegate Centre Paediatric Neurology, Sheffield Childrens Hospital, Tapton Crescent Road, Sheffield S10 5DD, UK. p.s.baxter@shefffield.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Humans Overdose Pyridoxal Phosphate / metabolism Pyridoxine / deficiency, metabolism, therapeutic use* Seizures / drug therapy*, metabolism gamma-Aminobutyric Acid / biosynthesis |
| Chemical | |
Reg. No./Substance:
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54-47-7/Pyridoxal Phosphate; 56-12-2/gamma-Aminobutyric Acid; 65-23-6/Pyridoxine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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