Newborn screening for pyridoxine-dependent epilepsy

Image credit: Boston Childrens


We suggest that PDE-ALDH7A1 is an ideal condition for newborn screening, and our preliminary data suggests that PDE-ALDH7A1 could be added to current newborn screening programs. Newborn screening would allow for treatment of more than just the epilepsy that previously defined this disorder.

Oct 3, 2023 10:00 AM
BCH Metabolism Grand Rounds Invited Speakers Series
Boston, MA
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.