Current Treatment and Management of Pyridoxine-Dependent Epilepsy

摘要

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.