title: Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.
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.
authors.affiliation: Centre for Paediatrics, Department of Neonatology, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Bagci
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: T
authors.initials: T
authors.lastname: Bast
authors.forename: J
authors.initials: J
authors.lastname: Klepper
authors.forename: A
authors.initials: A
authors.lastname: Müller
authors.forename: A
authors.initials: A
authors.lastname: Heep
authors.forename: P
authors.initials: P
authors.lastname: Bartmann
authors.forename: A R
authors.initials: AR
authors.lastname: Franz
mesh_terms: D001927:Brain Diseases / Q000188:drug therapy / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods*; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011732:Pyridoxal Phosphate / Q000031:analogs & derivatives* / Q000235:genetics; D011734:Pyridoxaminephosphate Oxidase / Q000235:genetics*
chemical_list: D011732:Pyridoxal Phosphate; D011734:Pyridoxaminephosphate Oxidase; C024593:pyridoxine 5-phosphate