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Article

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

PloS one - 1 Jan 2012

Sturm Marga, Herebian Diran, Mueller Martina, Laryea Maurice D, Spiekerkoetter Ute

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patients carried the prevalent c.985A>G mutation in the ACADM gene. Since the introduction of newborn screening many other mutations with unknown clinical relevance have...

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Source

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Identifiers

PMID: 23028790
DOI: 10.1371/journal.pone.0045110
PMCID: PMC3444485

Genes

ACADM

Variants

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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