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Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen

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Title: Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen

 

Background/Objective:

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.

 

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