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肉碱棕榈酰转移酶-2基因突变患者的能量利用
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作者 φrngreen m.C. dun. mφ +1 位作者 Ejstrup R. 郭俊 《世界核心医学期刊文摘(神经病学分册)》 2005年第5期13-14,共2页
Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II ) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of ... Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II ) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of CPT2 gene mutations a lso may have milder clinical symptoms, but fatty acid oxidation (FAO) has never been investigated in vivo in this group. We studied fuel utilization by indirect calorimetry and stable isotope methodology in four patients with CPT II deficie ncy, three subjects who carried one CPT2 gene mutation, and five healthy control subjects. Cycle exercise at a constant workload of 50% of maximal oxygen upta ke capacity was used to facilitate FAO. We found that in vivo oxidation of long  chain fatty acids was normal at rest but severely impaired during prolonged, lowintensity exercise in patients with CPT II deficiency, and that two of the single CPT2 gene mutation carriers, who displayed symptom s of CPT II deficiency, had an FAO comparable with the patients. These results i ndicate that residual CPT II activity is sufficient to maintain long chain FAO at rest in CPT II deficiency but not to increase FAO during exercise. The findi ngs also suggest that single CPT2 gene mutations may exert a dominant negative effect on the tetrameric CPT II protein. 展开更多
关键词 基因突变 间接测热法 痛性痉挛 最大摄氧量 基因携带者 长链脂肪酸 肌红蛋白尿 显性负效应 肌痛 同位素法
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