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Article

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Oct 2010

van Maldegem Bianca T, Wanders Ronald J A, Wijburg Frits A

Abstract excerpt

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis showing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20429031
DOI: 10.1007/s10545-010-9080-z
PMCID: PMC2946545

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20429031-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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