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Case Reports
. 2009 Mar;19(3):212-6.
doi: 10.1016/j.nmd.2009.01.008. Epub 2009 Feb 26.

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Wen-Chen Liang  1 , Aya Ohkuma, Yukiko K Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jong, Ichizo Nishino
Affiliations
Case Reports

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Wen-Chen Liang et al. Neuromuscul Disord. 2009 Mar.

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a metabolic disorder due to dysfunction of electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO). Mutations in ETFDH, encoding ETF-QO have been associated with both riboflavin-responsive and non-responsive MADD as well as a myopathic form of CoQ(10) deficiency, although pathomechanisms responsible for these different phenotypes are not well-defined. We performed mutation analysis in four Taiwanese MADD patients. Three novel ETFDH mutations were identified in four patients and all harbored the p.A84T mutation. Muscle CoQ(10) levels and respiratory chain activities measured in two patients were normal. Three patients improved on riboflavin together with carnitine. Our results show that not all MADD patients have CoQ(10) deficiency. Based upon our data, riboflavin and carnitine may be the first-line treatment for MADD.

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Conflict of interest statement

6. Conflicts of interest

The authors report no conflicts of interest.

Figures

Fig. 1.
Fig. 1.
Histological findings of muscle in patient 1 (A. Sudan black stain 400×), patient 3 (B. Oil Red-O stain 200×) and patient 4 (C. Oil Red-O stain 200×): lipid storage in vacuolar muscle fibers, predominantly in type 1 fibers.
See this image and copyright information in PMC

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