The time has come for newborn screening for pyridoxine-dependent epilepsy
Sep 1, 2022·
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0 min read
Curtis Coughlin II
SSIEMAbstract
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.
Date
Sep 1, 2022
Event
SSIEM Annual Symposium, Genetics Meets Environment
Location
In person
Freibrg im Breisagau,
