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Case Reports
. 2008 Mar;93(2):F151-2.
doi: 10.1136/adc.2006.115162.

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

S Bagci  1 , J Zschocke, G F Hoffmann, T Bast, J Klepper, A Müller, A Heep, P Bartmann, A R Franz
Affiliations
Case Reports

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

S Bagci et al. Arch Dis Child Fetal Neonatal Ed. 2008 Mar.

Abstract

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.

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