The time has come for newborn screening for pyridoxine-dependent epilepsy

Abstract

We suggest that PDE-ALDH7A1 is an ideal condition for newborn screening. Treatment with pyridoxine and LRT in the first few months of life can dramatically improve the outcome for this disorder. 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.

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.