Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase

S. Di Donato, F. E. Frerman, M. Rimoldi, P. Rinaldo, F. Taroni, U. N. Wiesmann

Research output: Contribution to journalArticle

Abstract

A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. He had glutaric aciduria type II, and his cultured fibroblasts contained normal activity of four different acyl CoA dehydrogenases, but there was deficiency of electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO). This enzyme is thought to reduce coenzyme Q in the respiratory chain, funneling reducing equivalents from seven flavoproteins in the β-oxidation of acyl CoAs. There was massive urinary excretion of the short-chain acylcarnitines that accumulated in mitochondria as a result of the ETF-QO defect. Carnitine therefore acts as a buffer for excessive accumulation of intramitochondrial acyl CoAs, and defective β-oxidation can cause carnitine insufficiency.

Original languageEnglish
Pages (from-to)957-963
Number of pages7
JournalNeurology
Volume36
Issue number7
Publication statusPublished - 1986

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Carnitine
Acyl-CoA Dehydrogenases
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Flavoproteins
Ubiquinone
Muscular Diseases
Electron Transport
Buffers
Mitochondria
Fibroblasts
Enzymes
electron-transferring-flavoprotein dehydrogenase
Systemic carnitine deficiency
acylcarnitine

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Di Donato, S., Frerman, F. E., Rimoldi, M., Rinaldo, P., Taroni, F., & Wiesmann, U. N. (1986). Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase. Neurology, 36(7), 957-963.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein : ubiquinone oxidoreductase. / Di Donato, S.; Frerman, F. E.; Rimoldi, M.; Rinaldo, P.; Taroni, F.; Wiesmann, U. N.

In: Neurology, Vol. 36, No. 7, 1986, p. 957-963.

Research output: Contribution to journalArticle

Di Donato, S, Frerman, FE, Rimoldi, M, Rinaldo, P, Taroni, F & Wiesmann, UN 1986, 'Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase', Neurology, vol. 36, no. 7, pp. 957-963.
Di Donato S, Frerman FE, Rimoldi M, Rinaldo P, Taroni F, Wiesmann UN. Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase. Neurology. 1986;36(7):957-963.
Di Donato, S. ; Frerman, F. E. ; Rimoldi, M. ; Rinaldo, P. ; Taroni, F. ; Wiesmann, U. N. / Systemic carnitine deficiency due to lack of electron transfer flavoprotein : ubiquinone oxidoreductase. In: Neurology. 1986 ; Vol. 36, No. 7. pp. 957-963.
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