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Article

Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.

Endocrine - 1 Nov 2025

Dong Liping, Zhang Zhen, Niu Tingting, Li Liangshan

Abstract excerpt

BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a disorder of mitochondrial fatty acid oxidation with an autosomal recessive manner and is due to the VLCAD enzyme deficiency which is encoded by the ACADVL gene. The purpose of this study was to elucidate the clinical manifestations and analyze the molecular findings of eight Chinese patients with VLCADD. METHODS: We investigated eight...

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Identifiers

PMID: 40848111
DOI: 10.1007/s12020-025-04399-1

Genes

ACADVL

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