Open AccessPyridoxal phosphate-dependent neonatal epileptic encephalopathy
Author(s) -
Soyhan Bağcı,
Johannes Zschocke,
G. F. Hoffmann,
Thomas Bast,
Jörg Klepper,
Andreas Müller,
Andrea Heep,
Peter Bartmann,
Axel R. Franz
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.11.2008.1247
Subject(s) - pyridoxine , pyridoxamine , medicine , pyridoxal phosphate , pyridoxal , phosphate , pyridoxal 5 phosphate , biochemistry , epilepsy , cofactor , pharmacology , chemistry , enzyme , psychiatry
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.