Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

ArticleinArchives of Disease in Childhood - Fetal and Neonatal Edition 93(2):F151-2 · April 2008with23 Reads
Impact Factor: 3.12 · DOI: 10.1136/adc.2006.115162 · Source: PubMed


    Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.