Enzyme analysis of isolated mitochondrial respiratory chain complex III deficiency
OBJECTIVE: To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex III deficiency
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 11 vom: 15. Nov., Seite 848-52 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2011
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Journal Article Research Support, Non-U.S. Gov't Electron Transport Complex II EC 1.3.5.1 Electron Transport Complex I EC 7.1.1.2 Electron Transport Complex III EC 7.1.1.8 |
| Zusammenfassung: | OBJECTIVE: To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex III deficiency METHOD: The clinical manifestations of five patients (3 males, 2 females) were summarized. Spectrophotometric assay was used for the analysis of respiratory chain complex I to V enzyme activity in peripheral blood leukocytes, after obtaining venous blood RESULT: (1) Five patients were hospitalized at the age of 1 month to 15 years. Three patients had Leigh syndrome with progressive motor developmental delay or regression and weakness. One had severe liver damage and intrahepatic cholestasis. One presented muscle weakness. (2) Deficient complex I + III activity was identified in five patients. Their complex I + III activities in peripheral blood leukocytes were 3.0 to 14.2 nmol/min per mg mitochondrial protein (control: 84.4 ± 28.5 nmol/min per mg mitochondrial protein). The ratio of complex I + III to citrate synthase decreased to 3.5 to 22.9% (normal control 66.1 ± 14.7%). The activities of complex III decreased to 10.4 to 49.3% of the lowest control value, while complex I, II, IV and V activities were normal. The results supported the diagnosis of isolated respiratory chain complex III deficiency CONCLUSION: Complex III deficiency is a kind of disorder of energy metabolism with various manifestations. The complex I + III activities and the ratio of complex I + III to citrate synthase were lower than those of the control. The activities of complex I, II, IV and V were normal |
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| Beschreibung: | Date Completed 10.05.2012 Date Revised 10.12.2019 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |