Reza M J, Kar N C, Pearson C M, Kark R A
Ann Intern Med. 1978 May;88(5):610-5. doi: 10.7326/0003-4819-88-5-610.
Three new cases of carnitine palmityl transferase deficiency are described. The syndrome consists of recurrent attacks of muscle cramps, weakness, malaise, and myoglobinuria. These attacks are especially likely to occur during prolonged exercise after fasting, eating a high-fat diet, or during cold weather. Occasionally after fasting alone, spontaneous muscle breakdown may occur. One patient studied in detail was excessively slow in producing ketones when he fasted. His mylagias and weakness appeared to be alleviated by beta-hydroxybutyrate. Of eight other patients thought to have idiopathic recurrent myoglobinuria, three were found to have myophosphorylase deficiency, whereas five did not have deficiency of either enzyme. Carnitine palmityl transferase deficiency may be more common than previously supposed, may be in part amenable to dietary therapy, can be easily distinguished from myophosphorylase deficiency, and may provide insight into the metabolism of fatty acids and ketone bodies as well as energy requirements of skeletal muscle.
本文描述了三例新的肉碱棕榈酰转移酶缺乏症病例。该综合征表现为反复发作的肌肉痉挛、无力、不适和肌红蛋白尿。这些发作尤其容易在禁食后长时间运动、高脂饮食或寒冷天气期间发生。偶尔仅在禁食后，也可能发生自发性肌肉分解。详细研究的一名患者在禁食时产生酮体的速度异常缓慢。他的肌痛和无力似乎通过β-羟基丁酸盐得到缓解。在其他八名被认为患有特发性复发性肌红蛋白尿的患者中，三名被发现患有肌磷酸化酶缺乏症，而五名患者两种酶均无缺乏。肉碱棕榈酰转移酶缺乏症可能比以前认为的更常见，部分可通过饮食疗法治疗，可轻松与肌磷酸化酶缺乏症区分开来，并且可能有助于深入了解脂肪酸和酮体的代谢以及骨骼肌的能量需求。
