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Article

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.

BMC medical genomics - 3 Apr 2018

Goh Liuh Ling, Lee Yingshan, Tan Ee Shien, Lim James Soon Chuan, Lim Chia Wei, Dalan Rinkoo

Abstract excerpt

BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oxidoreductases Acting on CH-NH Group Donors

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Source

Open in PubMed Open full text

Identifiers

PMID: 29615056
DOI: 10.1186/s12920-018-0356-8
PMCID: PMC5883299

Genes

ETFDH
MADD
ACOT11

Variants

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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