P-205 Glutaric aciduria type 1, before and after expanded newborn screening: the experience of a Portuguese Metabolic Diseases Unit 2014
Glutaric aciduria type 1 is a cerebral organic acid disorder caused by glutaryl-CoA dehydrogenase deficiency. Early detection by Expanded Newborn Screening Program (NBS) combined with guidelines for treatment and follow-up, have significantly improved neurological outcome. Methods: Retrospective cohort of GA-1 patients followed in a Portuguese Metabolic...