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Article

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Pediatric research - 1 Jan 2001

Corydon M J, Vockley J, Rinaldo P, Rhead W J, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell A C, Roe C, Matern D, Dasouki M, Gregersen N

Abstract excerpt

ABSTRACT Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding in patients suspected of...

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PMID: 11134486
DOI: 10.1203/00006450-200101000-00008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.PMID 11134486Read ↗

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