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Article

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Brain : a journal of neurology - 1 Aug 2007

Olsen Rikke K J, Olpin Simon E, Andresen Brage S, Miedzybrodzka Zofia H, Pourfarzam Morteza, Merinero Begoña, Frerman Frank E, Beresford Michael W, Dean John C S, Cornelius Nanna, Andersen Oluf, Oldfors Anders, Holme Elisabeth, Gregersen Niels, Turnbull Douglass M, Morris Andrew A M

Abstract excerpt

Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two flavoproteins, electron transfer flavoprotein (ETF) or ETF: ubiquinone oxidoreductase (ETF:QO). Some patients respond to pharmacological doses of riboflavin. It is unknown whether these patients have defects in the flavoproteins themselves or defects in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17584774
DOI: 10.1093/brain/awm135

Genes

MADD
ETFDH

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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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.PMID 17584774Read ↗

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A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.Semantic proximity Read ↗

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.Semantic proximity Read ↗

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