Pyridoxine or pyridoxal-5′-phosphate for neonatal epilepsy

Abstract

The discovery of the cause of pyridoxine-dependent epilepsy (PDE), a unique autosomal recessive and treatable cause of refractory neonatal seizures, came 50 years after its first description with the identification of ALDH7A1 mutations leading to deficiency of the enzyme α-aminoadipic semialdehyde dehydrogenase (antiquitin).1 Dysfunction of this enzyme interferes with lysine degradation and leads to accumulation of a carboxylate product that irreversibly inactivates pyridoxal-5′-phosphate (PLP), the biologically active form of vitamin B6.