Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F151-2. doi: 10.1136/adc.2006.115162.

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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / drug therapy
  • Brain Diseases / genetics*
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis / methods*
  • Electroencephalography / methods
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Phenotype
  • Pyridoxal Phosphate / analogs & derivatives*
  • Pyridoxal Phosphate / genetics
  • Pyridoxaminephosphate Oxidase / genetics*

Substances

  • Pyridoxal Phosphate
  • Pyridoxaminephosphate Oxidase
  • pyridoxine 5-phosphate