Rare disease
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
1 Centre for Paediatrics, Department of Neonatology, University of Bonn, Germany
2 Institute of Human Genetics, University of Heidelberg, Germany
3 Department of General Paediatrics, University of Heidelberg, Germany
4 Department of Paediatric Neurology, University of Heidelberg, Germany
5 Department of Paediatric Neurology, University of Essen, Germany
Correspondence to:
A R Franz, axel.franz{at}ukb.uni-bonn.de
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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