Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

C. Sobreira, M. Hirano, S. Shanske, R. K. Keller, R. G. Haller, E. Davidson, F. M. Santorelli, A. F. Miranda, E. Bonilla, D. S. Mojon, A. A. Barreira, M. P. King, S. DiMauro

Research output: Contribution to journalArticle

173 Citations (Scopus)

Abstract

Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor milestones, proximal weakness, premature exertional fatigue, and episodes of exercise-induced pigmenturia. She also developed partial-complex seizures. Serum creatine kinase was approximately four times the upper limit of normal and venous lactate was mildly elevated. Skeletal muscle biopsy revealed many ragged-red fibers, cytochrome c oxidase-deficient fibers, and excess lipid. In isolated muscle mitochondria, impaired oxygen consumption was corrected by the addition of decylubiquinone. During standardized exercise, ventilatory and circulatory responses were compatible with a defect of oxidation-phosphorylation, which was confirmed by near-infrared spectroscopy analysis. Biochemical analysis of muscle extracts revealed decreased activities of complexes I+II and I+III, while CoQ10 concentration was less than 25% of normal. With a brief course of CoQ10 (150 mg daily), the patient reported subjective improvement. The triad of CNS involvement, recurrent myoglobinuria, and ragged-red fibers should alert clinicians to the possibility of CoQ10 deficiency.

Original languageEnglish (US)
Pages (from-to)1238-1243
Number of pages6
JournalNeurology
Volume48
Issue number5
StatePublished - May 1997

Fingerprint

coenzyme Q10
Mitochondrial Encephalomyopathies
Myoglobinuria
Exercise
Muscle Mitochondrion
Lactic Acidosis
Near-Infrared Spectroscopy
Electron Transport Complex III
Brain Diseases
Electron Transport Complex IV
Creatine Kinase
Electron Transport
Oxygen Consumption
Fatigue
Siblings
Lactic Acid
Skeletal Muscle
Seizures
Phosphorylation
Electrons

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Sobreira, C., Hirano, M., Shanske, S., Keller, R. K., Haller, R. G., Davidson, E., ... DiMauro, S. (1997). Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology, 48(5), 1238-1243.

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. / Sobreira, C.; Hirano, M.; Shanske, S.; Keller, R. K.; Haller, R. G.; Davidson, E.; Santorelli, F. M.; Miranda, A. F.; Bonilla, E.; Mojon, D. S.; Barreira, A. A.; King, M. P.; DiMauro, S.

In: Neurology, Vol. 48, No. 5, 05.1997, p. 1238-1243.

Research output: Contribution to journalArticle

Sobreira, C, Hirano, M, Shanske, S, Keller, RK, Haller, RG, Davidson, E, Santorelli, FM, Miranda, AF, Bonilla, E, Mojon, DS, Barreira, AA, King, MP & DiMauro, S 1997, 'Mitochondrial encephalomyopathy with coenzyme Q10 deficiency', Neurology, vol. 48, no. 5, pp. 1238-1243.
Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology. 1997 May;48(5):1238-1243.
Sobreira, C. ; Hirano, M. ; Shanske, S. ; Keller, R. K. ; Haller, R. G. ; Davidson, E. ; Santorelli, F. M. ; Miranda, A. F. ; Bonilla, E. ; Mojon, D. S. ; Barreira, A. A. ; King, M. P. ; DiMauro, S. / Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. In: Neurology. 1997 ; Vol. 48, No. 5. pp. 1238-1243.
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AU - Davidson, E.

AU - Santorelli, F. M.

AU - Miranda, A. F.

AU - Bonilla, E.

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AU - DiMauro, S.

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AB - Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor milestones, proximal weakness, premature exertional fatigue, and episodes of exercise-induced pigmenturia. She also developed partial-complex seizures. Serum creatine kinase was approximately four times the upper limit of normal and venous lactate was mildly elevated. Skeletal muscle biopsy revealed many ragged-red fibers, cytochrome c oxidase-deficient fibers, and excess lipid. In isolated muscle mitochondria, impaired oxygen consumption was corrected by the addition of decylubiquinone. During standardized exercise, ventilatory and circulatory responses were compatible with a defect of oxidation-phosphorylation, which was confirmed by near-infrared spectroscopy analysis. Biochemical analysis of muscle extracts revealed decreased activities of complexes I+II and I+III, while CoQ10 concentration was less than 25% of normal. With a brief course of CoQ10 (150 mg daily), the patient reported subjective improvement. The triad of CNS involvement, recurrent myoglobinuria, and ragged-red fibers should alert clinicians to the possibility of CoQ10 deficiency.

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