Whitaker J N, Dimauro S, Solomon S S, Sabesin S, Duckworth W C, Mendell J R
Am J Med. 1977 Nov;63(5):805-15. doi: 10.1016/0002-9343(77)90167-x.
A patient with progressive skeletal muscle weakness had lipid-containing vacuoles in type I muscle fibers and partial carnitine deficiency of skeletal muscle. Results of certain liver function tests were abnormal, marked morphologic abnormalities of liver were detected, and a reduced cyclic adenosine 3',5'-monophosphate response to glucagon was present. After the oral administration of prednisone the patient exhibited gradual but striking clinical improvement, skeletal muscle fiber vacuoles could no longer be demonstrated, and the glucagon-provoked cyclic AMP response reverted to normal, but liver abnormalities persisted. At the same time utilization by skeletal muscle of long-chain fatty acids, pyruvate and beta-hydroxybutyrate was depressed. It is possible that the involvement of skeletal muscles was due to an inability of carnitine to attach to or to penetrate the sarcolemmal membrane. Some of the derangement, perhaps related to liver malfunction, was apparently corrected by the oral administration of prednisone although skeletal muscle metabolism remained impaired.
一名进行性骨骼肌无力患者的I型肌纤维中存在含脂质的空泡，且骨骼肌存在部分肉碱缺乏。某些肝功能检查结果异常，检测到肝脏有明显的形态学异常，并且对胰高血糖素的环磷酸腺苷反应降低。口服泼尼松后，患者临床症状逐渐但显著改善，骨骼肌纤维空泡不再出现，胰高血糖素激发的环磷酸腺苷反应恢复正常，但肝脏异常仍然存在。与此同时，骨骼肌对长链脂肪酸、丙酮酸和β-羟基丁酸的利用受到抑制。骨骼肌受累可能是由于肉碱无法附着于或穿透肌细胞膜。口服泼尼松显然纠正了一些可能与肝功能障碍有关的紊乱，尽管骨骼肌代谢仍受损。
