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Article

One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2020

Li Xiyuan, Ma Rui, Liu Yi, Kang Lulu, He Ruxuan, Song Jinqing, Ren Jing, Li Yang, Huang Min, Men Jianlong, Yang Yanling

Abstract excerpt

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency), a rare autosomal recessive disorder, is characterized by hypoketotic hypoglycemia, cardiomyopathy, liver damage, and myopathy. VLCAD deficiency is caused by defects of ACADVL gene, which encodes VLCAD protein. The aim of this study was to determine the clinical, biochemical, prognosis and mutation spectrum of patients with VLCAD...

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Identifiers

PMID: 31794763
DOI: 10.1016/j.cca.2019.11.034

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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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