| Title | A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. | | Author(s) | Boitier E, Degoul F, Desguerre I, Charpentier C, François D, Ponsot G, Diry M, Rustin P, Marsac C | | Institution | INSERM U75, Faculté de Médecine Necker-Enfants Malades, Paris, France. | | Source | J Neurol Sci 1998; 156(1):41-6. | | MeSH | Cerebellar Ataxia
Child, Preschool
Electron Transport
Epilepsy
Humans
Kinetics
Lactic Acid
Male
Mitochondria, Muscle
Mitochondrial Encephalomyopathies
Muscle, Skeletal
Polarography
Research Support, Non-U.S. Gov't
Retinal Diseases
Ubiquinone
| | Abstract | We report severe coenzyme Q10 deficiency of muscle in a 4-year-old boy presenting with progressive muscle weakness, seizures, cerebellar syndrome, and a raised cerebro-spinal fluid lactate concentration. State-3 respiratory rates of muscle mitochondria with glutamate, pyruvate, palmitoylcarnitine, and succinate as respiratory substrates were markedly reduced, whereas ascorbate/N,N,N',N'-tetramethyl-p-phenylenediamine were oxidized normally. The activities of complexes I, II, III and IV of the electron transport chain were normal, but the activities of complexes I+III and II+III, both systems requiring coenzyme Q10 as an electron carrier, were dramatically decreased. These results suggested a defect in the mitochondrial coenzyme Q10 content. This was confirmed by the direct assessment of coenzyme Q10 level by high-performance liquid chromatography in patient's muscle homogenate and isolated mitochondria, revealing levels of 16% and 6% of the control values, respectively. We did not find any impairment of the respiratory chain either in a lymphoblastoid cell line or in skin cultured fibroblasts from the patient, suggesting that the coenzyme Q10 depletion was tissue-specific. This is a new case of a muscle deficiency of mitochondrial coenzyme Q in a patient suffering from an encephalomyopathy. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 9559985 |
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