Pyridoxine Responsiveness and PNPO Gene Mutations

Abstract

Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.

Keywords

• pyridoxal 5-phosphate oxidase
• burst-suppression pattern
• cases of partial pyridoxine