Electron transfer flavoprotein

ubiquinone oxidoreductase (ETF:QO) deficiency in an adult

R. B. Bell, A. K W Brownell, C. R. Roe, Andrew G Engel, S. I. Goodman, F. E. Frerman, D. W. Seccombe, F. F. Snyder

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

A 19-year-old woman with mild myopathic symptoms from age 6 and fasting intolerance presented with a Reye-like syndrome and a myopathy. Investigations disclosed a lipid storage myopathy, type II glutaric acidemia, and carnitine deficiency in skeletal muscle. Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically. She later died from pulmonary complications secondary to aspiration. Subsequent studies established electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) deficiency (fibroblast ETF:QO activity was 2.9 mU/mg, normal range is 14.1 ± 3.8 mU/mg) as the cause of her illness. This is the first documented case of ETF:QO diagnosed in an adult.

Original languageEnglish (US)
Pages (from-to)1779-1782
Number of pages4
JournalNeurology
Volume40
Issue number11
StatePublished - 1990

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Carnitine
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Reye Syndrome
Riboflavin
Muscular Diseases
Fasting
Reference Values
Skeletal Muscle
Fibroblasts
Lung
electron-transferring-flavoprotein dehydrogenase
Coenzyme Q10 Deficiency
Therapeutics
Myopathy with Abnormal Lipid Metabolism
Aspirations (Psychology)

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bell, R. B., Brownell, A. K. W., Roe, C. R., Engel, A. G., Goodman, S. I., Frerman, F. E., ... Snyder, F. F. (1990). Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. Neurology, 40(11), 1779-1782.

Electron transfer flavoprotein : ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. / Bell, R. B.; Brownell, A. K W; Roe, C. R.; Engel, Andrew G; Goodman, S. I.; Frerman, F. E.; Seccombe, D. W.; Snyder, F. F.

In: Neurology, Vol. 40, No. 11, 1990, p. 1779-1782.

Research output: Contribution to journalArticle

Bell, RB, Brownell, AKW, Roe, CR, Engel, AG, Goodman, SI, Frerman, FE, Seccombe, DW & Snyder, FF 1990, 'Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult', Neurology, vol. 40, no. 11, pp. 1779-1782.
Bell RB, Brownell AKW, Roe CR, Engel AG, Goodman SI, Frerman FE et al. Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. Neurology. 1990;40(11):1779-1782.
Bell, R. B. ; Brownell, A. K W ; Roe, C. R. ; Engel, Andrew G ; Goodman, S. I. ; Frerman, F. E. ; Seccombe, D. W. ; Snyder, F. F. / Electron transfer flavoprotein : ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. In: Neurology. 1990 ; Vol. 40, No. 11. pp. 1779-1782.
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