Title: Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen
Newborn screening programs now allow for early diagnosis of multiple metabolic disorders, however many infants remain asymptomatic. Illinois has included very long chain fatty acyl-CoA dehydrogenase deficiency (VLCADD), isovaleric acidemia (IVA), and 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in newborn screening since 2002. All three disorders are autosomal recessive and have variable phenotypes ranging fromsevere neonatal/infant symptoms to asymptomatic adults. Dietary interventions are possible to limit symptoms. Our objective is to clinically characterize patients diagnosed with VLCADD, IVA, and 3-MCCD after positive newborn screen.