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Article

Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.

Journal of inherited metabolic disease - 1 Nov 2014

Koster Kira-Lee, Sturm Marga, Herebian Diran, Smits Sander H J, Spiekerkoetter Ute

Abstract excerpt

Medium-chain acyl-coenzyme-A dehydrogenase (MCAD) catalyzes the first step of mitochondrial beta-oxidation for medium-chain acyl-CoAs. Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism. Since fatty-acid-oxidation disorders are part of newborn screening (NBS), many novel mutations with unknown clinical relevance have been identified in asymptomatic...

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Share to Acyl-CoA Dehydrogenase
Share to Acyl Coenzyme A

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Flavin-Adenine Dinucleotide

Share to Lipid Metabolism, Inborn Errors

Share to Neonatal Screening

Share to Oxidation-Reduction

Share to Protein Structure, Tertiary

Share to Substrate Specificity

Source

Identifiers

PMID: 24966162
DOI: 10.1007/s10545-014-9732-5

Genes

ACADM

Provenance

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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Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.PMID 24966162Read ↗

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Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read ↗

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