An abnormal exercise test response revealing a respiratory chain complex III deficiency
| Autor: | R. Dumoulin, B. Mousson, Monique Mathieu, F. Flocard, Mohamed Fouad Bouzidi, S. Quard, J. M. Collombet, Catherine Godinot, H. Carrier, I. Maire |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Respiratory chain Exercise intolerance DNA Mitochondrial Incremental exercise Electron Transport Complex III Plasma Oxygen Consumption Mitochondrial myopathy Heart Rate Internal medicine medicine Humans Muscle biopsy medicine.diagnostic_test business.industry Muscles Respiration Mitochondrial Myopathies General Medicine medicine.disease Succinate Dehydrogenase Endocrinology Mitochondrial respiratory chain Neurology Coenzyme Q – cytochrome c reductase Exercise Test Neurology (clinical) medicine.symptom business Anaerobic exercise |
| Zdroj: | Acta Neurologica Scandinavica. 91:488-493 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.1995.tb00451.x |
| Popis: | A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen consumption with appropriate heart rate increase and an anaerobic threshold point reached early. The metabolic investigation in plasma revealed an abnormal oxidoreduction status (hyperlactataemia and high lactate/pyruvate ratio) at rest and after a carbohydrate rich meal. The histochemical examination of a muscle biopsy revealed red granular deposits under the sarcolemma for all type 1 fibers. Oxypolarographic and enzymological studies of the mitochondrial respiratory chain in both isolated mitochondria and muscle homogenate demonstrated a marked deficiency of ubiquinol cytochrome c reductase (complex III) activity. |
| Databáze: | OpenAIRE |
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