A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature

BACKGROUND: Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian baby girl with severe, early-onset form...

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Detalles Bibliográficos
Autores principales: Arunath, Visvalingam, Liyanarachchi, Manoj Sanjeewa, Gajealan, Sundararajah, Jasinge, Eresha, Weerasekara, Kumudu, Moheb, Lia Abbasi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8407922/
https://www.ncbi.nlm.nih.gov/pubmed/34465376
http://dx.doi.org/10.1186/s13256-021-03013-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8407922/
https://www.ncbi.nlm.nih.gov/pubmed/34465376
http://dx.doi.org/10.1186/s13256-021-03013-y

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