1.
J Pediatr
; 110(2): 223-7, 1987 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-3100753
RESUMEN
Muscle biopsy specimens from two patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) were studied biochemically. 14CO2 production rates from (1-14C)pyruvate, (U-14C)malate, and (1-14C)2-ketoglutarate were all decreased in intact mitochondria in both patients. Rotenone-sensitive NADH cytochrome c reductase activities were decreased to 8% (patient 1) and 6% (patient 2) of control values; succinate cytochrome c reductase and cytochrome c oxidase values were within normal limits. These results indicate that both patients have a defect of NADH-CoQ reductase of the respiratory chain and that MELAS can be brought about by a defect of NADH-CoQ reductase.
Asunto(s)
Acidosis Láctica/enzimología , Encefalopatías/enzimología , Trastornos Cerebrovasculares/enzimología , Enfermedades Musculares/enzimología , NAD/deficiencia , Quinona Reductasas/deficiencia , Adolescente , Humanos , Masculino , Mitocondrias Musculares/metabolismo , NAD(P)H Deshidrogenasa (Quinona) , Síndrome
2.
J Pediatr
; 103(2): 268-70, 1983 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-6875722