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Article

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.

Journal of inherited metabolic disease - 1 Apr 2011

Schmidt Stinne P, Corydon Thomas J, Pedersen Christina B, Vang Søren, Palmfeldt Johan, Stenbroen Vibeke, Wanders Ronald J A, Ruiter Jos P N, Gregersen Niels

Abstract excerpt

BACKGROUND: Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genotype-phenotype correlation, which suggests a multifactorial disorder. The pathophysiological relevance of the genetic...

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Source

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Identifiers

PMID: 21170680
DOI: 10.1007/s10545-010-9255-7
PMCID: PMC3063561

Genes

ACADS
SOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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