Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy A New Approach to an Old Disease

The metabolic disorder, pyridoxine-dependent epilepsy (PDE), exemplifies the principle that expeditious diagnosis and implementation of a targeted therapy, in this case, pyridoxine or vitamin B6, may prevent catastrophic neurodevelopmental outcomes. Scurvy in sailors was the first disease identified as curable by ingestion of a vitamin over 300 years ago. The association between pyridoxine and early onset neonatal epileptic encephalopathy was established by a single-case report nearly 70 years ago.(1) A mother's third pregnancy led to a child successfully treated for neonatal seizures once it became apparent that vitamins ingested during gestation had relieved hyperemesis gravidarum and then neonatal seizures. This followed a prior pregnancy with a devastating neurologic outcome in an older sibling, without the benefit of vitamin trials and a diagnosis.