Pyridoxamine 5’-Phosphate Oxidase Deficiency: A Potentially Treatable Epileptic Encephalopathy

Abstract

Pyridoxal phosphate-responsive neonatal epileptic encephalopathy due to pyridoxamine-5-primephosphate oxidase deficiency is a rare cause of epileptic encephalopathy. A neonate with this condition presents early in life with refractory seizures which does not respond to conventional anti-epileptic medications, depressed level of consciousness, and severe psychomotor retardation if left untreated. Early initiation of active cofactor pyridoxal-5’-phophate can be curative. We are describing a rare neurometabolic condition; the first case in the Kingdom of Bahrain to the best of our knowledge.