Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening
Mar 8, 2023·
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1 min read
Curtis Coughlin II
Childerns Hospital Orange County (CHOC)Abstract
Dr. Coughlin is the keynote speaker for the joint CHOC-UCLA Rare Disease day and provides an overview of PDE-ALDH7A1 at pediatric grand rounds
Date
Mar 8, 2023
Event
Rare Disease Day - Pediatric Grand Rounds
Location
Hybrid
Podcast Overview
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.
