title: Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
abstract: Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to treatment with conventional antiepileptic drugs. Six children with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency presented with neonatal epileptic encephalopathy. Two were treated with pyridoxal 5'-phosphate (PLP) within the first month of life and showed normal development or moderate psychomotor retardation thereafter. Four children with late or no treatment died or showed severe mental handicap. All of the children showed atypical biochemical findings. Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency.
authors.affiliation: Department of General Pediatrics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: B
authors.initials: B
authors.lastname: Schmitt
authors.forename: M
authors.initials: M
authors.lastname: Windfuhr
authors.forename: N
authors.initials: N
authors.lastname: Wagner
authors.forename: H
authors.initials: H
authors.lastname: Strehl
authors.forename: S
authors.initials: S
authors.lastname: Bagci
authors.forename: A R
authors.initials: AR
authors.lastname: Franz
authors.forename: P B
authors.initials: PB
authors.lastname: Mills
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: M R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: T
authors.initials: T
authors.lastname: Bast
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
mesh_terms: D017668:Age of Onset; D001927:Brain Diseases / Q000188:drug therapy*; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy*; D008954:Models, Biological; D011732:Pyridoxal Phosphate / Q000627:therapeutic use*; D011734:Pyridoxaminephosphate Oxidase / Q000172:deficiency*; D013997:Time Factors; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D011732:Pyridoxal Phosphate; D011734:Pyridoxaminephosphate Oxidase