Sadeh M, Gutman A
Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Isr J Med Sci. 1990 Sep;26(9):510-5.
Six patients with carnitine palmitoyltransferase (CPT) deficiency were diagnosed. Five were males aged 12-48 years and one was a 7-year-old girl. Severe myoglobinuria with renal shut-down led to the diagnosis in four, the main cause of myoglobinuria being prolonged exertion. Other precipitating factors included febrile illnesses, fasting and sleep deprivation. Between attacks, EMG, serum creatine kinase (CK) activity and the response of serum lactate to ischemic exercise were normal in all patients. The diagnosis of CPT deficiency was based on assay of the enzyme by the isotope exchange assay in leukocyte, muscle or cultured skin fibroblast homogenates. CPT activity assayed by the forward assay under standard conditions was normal. CPT deficiency seems to be a common cause of exercise-induced myoglobinuria. Prompt diagnosis can lead to avoidance of risk factors and prevention of rhabdomyolysis and its consequences.
诊断出6例肉碱棕榈酰转移酶（CPT）缺乏症患者。其中5例为男性，年龄在12至48岁之间，1例为7岁女孩。4例因严重肌红蛋白尿伴肾衰竭而确诊，肌红蛋白尿的主要原因是长时间运动。其他诱发因素包括发热性疾病、禁食和睡眠剥夺。在发作间期，所有患者的肌电图、血清肌酸激酶（CK）活性以及血清乳酸对缺血运动的反应均正常。CPT缺乏症的诊断基于通过同位素交换法在白细胞、肌肉或培养的皮肤成纤维细胞匀浆中检测该酶。在标准条件下通过正向测定法检测的CPT活性正常。CPT缺乏似乎是运动诱发肌红蛋白尿的常见原因。及时诊断可避免危险因素，预防横纹肌溶解及其后果。
