Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment

Current Opinion in Neurology
S M Gospe

Abstract

Pyridoxine dependency is an uncommon but important cause of intractable seizures presenting in infancy and early childhood. This paper discusses recent clinical, biochemical and genetic studies and how the findings should change our approach in evaluating young patients with antiepileptic drug-resistant seizures. Originally thought to be due to abnormal binding of pyridoxal phosphate to glutamic acid decarboxylase resulting in decreased gamma-aminobutyric acid, mutations in the gene encoding this enzyme have been ruled out. While linkage to 5q31 has been demonstrated, a disease-causing gene in that region has not been identified. Further haplotype analysis of six affected kindreds has demonstrated genetic heterogeneity for this rare disorder. Other studies demonstrate that some children with intractable seizures respond to pyridoxal phosphate rather than pyridoxine, including a rare form of neonatal epileptic encephalopathy shown to be due to mutations in the PNPO gene for pyridox(am)ine 5'-phosphate oxidase. While the biochemical explanation for this finding is not clear, elevated pipecolic acid levels may serve as a diagnostic marker for patients with pyridoxine-dependent seizures. The results of these studies should prompt c...Continue Reading

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Citations

Feb 1, 2007·Journal of Inherited Metabolic Disease·P L Pearl, S M Gospe
Feb 24, 2009·Journal of Inherited Metabolic Disease·P L Pearl
Apr 19, 2011·Journal of Paediatrics and Child Health·Nune S YeghiazaryanPasquale Striano
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