Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

► Compare outcomes in GA-1 diagnosed clinically or by expanded newborn screening. ► The rate of 3 adverse outcomes was reduced when identified by newborn screening. ► Widening of Sylvian fissures resolved by 4 years of age in treated patients. ► Discovered direct correlation between plasma lysine and urinary glutaric acid.