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Article

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Human mutation - 1 May 2005

Maier Esther M, Liebl Bernhard, Röschinger Wulf, Nennstiel-Ratzel Uta, Fingerhut Ralph, Olgemöller Bernhard, Busch Ulrich, Krone Nils, v Kries Rüdiger, Roscher Adelbert A

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent inherited defect of fatty acid oxidation, with a significant morbidity and mortality in undiagnosed patients. Adverse outcomes can effectively be prevented by avoiding metabolic stress and following simple dietary measures. Therefore, prospective newborn screening (NBS) is being proposed for this condition. However, technical validation...

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PMID: 15832312
DOI: 10.1002/humu.20163

Genes

ACADM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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