Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
ACADVL
rhabdomyolysis
very long-chain acyl-CoA dehydrogenase deficiency
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Nov 2020
01 Nov 2020
Historique:
pubmed:
17
7
2020
medline:
23
3
2021
entrez:
17
7
2020
Statut:
ppublish
Résumé
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).
Identifiants
pubmed: 32669490
doi: 10.2169/internalmedicine.4604-20
pmc: PMC7691026
doi:
Substances chimiques
Acyl-CoA Dehydrogenase, Long-Chain
EC 1.3.8.8
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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