Di Donato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Cardace G, Bertagnolio B
J Neurol Sci. 1981 May;50(2):207-15. doi: 10.1016/0022-510x(81)90167-2.
Episodes with muscle ache, rhabdomyolysis and myoglobinuria with or without associated renal insufficiency are characteristic of muscle carnitinepalmitoyltransferase (CPT) deficiency. However, patients differ from each other in many aspects, such as the kind of stimulus that triggers rhabdomyolysis, the ability to produce ketone bodies when fasting, whether the enzyme defect is localized in skeletal muscle or is general, and the nature of the enzyme defect, which may be in CPT I or CPT II or both. Studies of muscle, liver and fibroblasts from a patient with recurrent rhabdomyolysis spontaneously occurring or triggered by exercise or fever, revealed a CPT deficiency in the muscle and liver biopsy samples but normal CPT activity in cultured cells, differing from previously reported patients. The enzyme defect in muscle was evidenced by two different methods, but not when determined with a method that measures the formation of palmitoylcarnitine. The enzyme abnormality in the patient's liver was associated with a delayed ketone body production and with a dramatic increase in long-chain acylcarnitines in the serum when fasting. Moreover the patient was unable to build up ketones when fed long-chain triglycerides (LCT) but showed prompt ketogenic response when fed medium-chain triglycerides (MCT). The heterogeneity of clinical presentations and of the biochemical findings in patients with CPT deficiency are discussed.
伴有或不伴有相关肾功能不全的肌肉疼痛、横纹肌溶解和肌红蛋白尿发作是肌肉肉碱棕榈酰转移酶（CPT）缺乏症的特征。然而，患者在许多方面存在差异，例如触发横纹肌溶解的刺激类型、禁食时产生酮体的能力、酶缺陷是局限于骨骼肌还是全身性的，以及酶缺陷的性质，可能是CPT I或CPT II或两者都有。对一名复发性横纹肌溶解患者（自发发生或由运动或发热触发）的肌肉、肝脏和成纤维细胞进行研究，发现肌肉和肝脏活检样本中存在CPT缺乏，但培养细胞中的CPT活性正常，这与先前报道的患者不同。肌肉中的酶缺陷通过两种不同方法得到证实，但用测量棕榈酰肉碱形成的方法测定时未得到证实。患者肝脏中的酶异常与酮体产生延迟以及禁食时血清中长链酰基肉碱显著增加有关。此外，患者喂食长链甘油三酯（LCT）时无法生成酮体，但喂食中链甘油三酯（MCT）时表现出迅速的生酮反应。本文讨论了CPT缺乏症患者临床表现和生化结果的异质性。
