| Autor: |
Papadimitriou, Alexander, Neustein, Harry B, Dimauro, Salvatore, Stanton, Robert, Bresolin, Nereo |
| Zdroj: |
Pediatric Research; October 1984, Vol. 18 Issue: 10 p1023-1028, 6p |
| Abstrakt: |
Summary: A 3-week-old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. Biochemical studies showed markedly decreased succinate-cyto-chrome c reductase and rotenone-sensitive NADH-cytochrome c reductase activities, while other mitochondrial enzymes were normal. In isolated mitochondria, cytochrome spectra showed a severe defect of reducible cytochrome b and a less marked defect of cytochrome cc1, while the content of cytochrome aa3(cyto-chrome c oxidase) was normal. Histiocytoid cardiomyopathy appears to be due to a defect of complex III (reduced coenzyme Q-cytochrome c reductase) in the respiratory chain of heart mitochondria. |
| Databáze: |
Supplemental Index |
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