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Article

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Journal of clinical neuromuscular disease - 1 Dec 2013

Antunes Ana Patrícia, Nogueira Célia, Rocha Hugo, Vilarinho Laura, Evangelista Teresinha

Abstract excerpt

Deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD) is an autosomal recessive disease. Most common phenotypes occur in the neonatal period or in childhood with cardiomyopathy, hepatomegaly, and hypoketogenic hypoglycemia. Juvenile/adult-onset is characterized by exercise intolerance and recurrent rhabdomyolysis triggered by prolonged exercise or fasting. This article reports a patient with the homozygous...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24263034
DOI: 10.1097/CND.0000000000000012

Genes

ACADVL

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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Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.PMID 24263034Read ↗

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