Tags: Disease.
Pyridoxine-dependent epilepsy (PDE EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare disorder characterised by intractable seizures in newborn children that require lifelong B6 supplementation to treat. The disorder was first recognized in the 1950s with the first description provided by Hunt et al. in 1954. The most likely cause is an autosomal recessive mutation in ALDH7A1 (antiquitin) gene. It is believed to affect around 1 in 400000 to 700000 births.
