Enzyme analysis of isolated mitochondrial respiratory chain complex III deficiency / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 848-852, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-356361
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex III deficiency.</p><p><b>METHOD</b>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.</p><p><b>RESULT</b>(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.</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Leucócitos Mononucleares
/
Doença de Leigh
/
Complexo III da Cadeia de Transporte de Elétrons
/
Doenças Mitocondriais
/
Complexo I de Transporte de Elétrons
/
Complexo II de Transporte de Elétrons
/
Diagnóstico
/
Metabolismo
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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