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Article

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

Journal of inherited metabolic disease - 1 Jan 2004

Olsen R K J, Pourfarzam M, Morris A A M, Dias R C, Knudsen I, Andresen B S, Gregersen N, Olpin S E

Abstract excerpt

We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight...

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Share to Acyl-CoA Dehydrogenases
Share to Electron-Transferring Flavoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex I

Share to Iron-Sulfur Proteins

Share to Lipid Metabolism, Inborn Errors

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Share to Oxidoreductases Acting on CH-NH Group Donors

Share to Respiration, Artificial

Source

Identifiers

PMID: 15669683
DOI: 10.1023/b:boli.0000042986.10291.e9

Genes

MADD

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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Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.PMID 15669683Read ↗

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