Pyridoxamine 5’-phosphate oxidase deficiency : a potentially treatable epileptic encephalopathy

الملخص EN

Pyridoxal phosphate-responsive neonatal epileptic encephalopathy due to pyridoxamine-5-prime-phosphate 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.