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Article

A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.

Journal of human genetics - 1 Apr 2024

Wen Bing, Tang Runqi, Tang Shuyao, Sun Yuan, Xu Jingwen, Zhao Dandan, Wang Tan, Yan Chuanzhu

Abstract excerpt

Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscle by triglyceride accumulation in muscle fibers. Riboflavin therapy has been shown to ameliorate symptoms in some LSM patients who are essentially concerned with multiple acyl-CoA dehydrogenation deficiency (MADD). It is proved that riboflavin responsive LSM caused by MADD is mainly due to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lipid Metabolism, Inborn Errors

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Source

Identifiers

PMID: 38228875
DOI: 10.1038/s10038-023-01216-3

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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