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Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

18 Feb 2009

Abstract excerpt

Newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) revealed a higher birth prevalence and genotypic variability than previously estimated, including numerous novel missense mutations in the ACADM gene. On average, these mutations are associated with milder biochemical phenotypes raising the question about their pathogenic relevance. In this study, we analyzed the impact of 10 ACADM...

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PMID: 19224950
DOI: 10.1093/hmg/ddp079

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