Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening

Image credit: CHOC


Pyridoxine-dependent epilepsy (PDE) is a rare but treatable disorder. This lecture will focus on the use of lysine-reduction threapies (LRT). Treatment with both B6 and LRT in the first few months of life can significanly improve the IQ of patients with PDE and suggests that patients would benefit from a traditional newborn screening approach.

Mar 8, 2023 8:00 AM
Rare Disease Day - Pediatric Grand Rounds
Orange, CA
Curtis R. Coughlin II
Curtis R. Coughlin II
Associate Professor

My research interests include inborn errors of metabolism that impact neurologic function with a focus on pyridoxine-dependent epilepsy, glutaric aciduria I, and vitamin B6 metabolism.