Pyridoxine dependent seizures (PDE) consists of a group of rare disorders defined with intractable seizures that are refractory to treatment with anticonvulsants, but that respond dramatically to large supplements of pyridoxine or vitamin B6.
PDE is recognized as an autosomal recessive disorder, caused by mutations in the ALDH7A1 gene. This gene codes for an enzyme called antiquitin, whose major role is in lysine catabolism in the brain.