Pyridox(am)ine 5′-Phosphate Oxidase Deficiency: Severe Prenatal Presentation with Hypoxic Ischemic Encephalopathy

Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive vitamin-responsive epileptic encephalopathy that manifests with a clinically and electrographically observable antiepileptic response to pyridoxine or pyridoxal 5′-phosphate (P5P). We report a preterm infant who presented with fetal distress and hypoxic ischemic encephalopathy (HIE) as well as seizures that responded to pyridoxine in the first day of life. The...