Faigel H C
University Health Services, Brandeis University, USA.
J Am Coll Health. 1995 Sep;44(2):51-4. doi: 10.1080/07448481.1995.9937511.
Type II carnitine palmitoyltransferase deficiency is the most common cause of exercise-induced rhabdomyolysis, myoglobinuria, and proximal muscle weakness and pain in young adults. A lack of this enzyme impairs mitochondrial oxidation of long-chain fatty acids and can lead to rhabdomyolysis, myoglobinuria, and renal failure. Carnitine palmitoyltransferase deficiency, unusual but not rare, is often detected by finding elevated creatine phosphokinase level in a routine blood chemistry panel. A case of carnitine palmitoyltransferase deficiency in a college athlete is presented, and the disorder is compared with defective myophosphorylation in McArdle's disease, the next most frequent cause of similar symptoms.
II型肉碱棕榈酰转移酶缺乏症是年轻成年人运动诱发横纹肌溶解、肌红蛋白尿以及近端肌无力和疼痛的最常见原因。这种酶的缺乏会损害长链脂肪酸的线粒体氧化，并可导致横纹肌溶解、肌红蛋白尿和肾衰竭。肉碱棕榈酰转移酶缺乏症虽不常见但也并不罕见，常在常规血液化学检查中发现肌酸磷酸激酶水平升高时被检测出来。本文介绍了一名大学运动员患肉碱棕榈酰转移酶缺乏症的病例，并将该病症与麦卡德尔病中肌磷酸化缺陷进行了比较，麦卡德尔病是类似症状的第二常见病因。
