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Article

Structural organization of the human short-chain acyl-CoA dehydrogenase gene.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 1997

Corydon M J, Andresen B S, Bross P, Kjeldsen M, Andreasen P H, Eiberg H, Kølvraa S, Gregersen N

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) is a homotetrameric mitochondrial flavoenzyme that catalyzes the initial reaction in short-chain fatty acid beta-oxidation. Defects in the SCAD enzyme are associated with failure to thrive, often with neuromuscular dysfunction and elevated urinary excretion of ethylmalonic acid (EMA). To define the genetic basis of SCAD deficiency and ethylmalonic aciduria in patients, we...

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Source

Identifiers

PMID: 9383286
DOI: 10.1007/s003359900612

Genes

ACADS

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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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Structural organization of the human short-chain acyl-CoA dehydrogenase gene.PMID 9383286Read ↗

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.Semantic proximity Read ↗

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