Department of Sports Sciences, The University of Tokyo, Komaba 3-8-1, Meguro-ku, Tokyo 153-8902, Japan.
Biology (Basel). 2014 Feb 25;3(1):157-66. doi: 10.3390/biology3010157.
McArdle disease (glycogen storage disease Type V; MD) is a metabolic myopathy caused by a deficiency in muscle glycogen phosphorylase. Since muscle glycogen is an important fuel for muscle during exercise, this inborn error of metabolism provides a model for understanding the role of glycogen in muscle function and the compensatory adaptations that occur in response to impaired glycogenolysis. Patients with MD have exercise intolerance with symptoms including premature fatigue, myalgia, and/or muscle cramps. Despite this, MD patients are able to perform prolonged exercise as a result of the "second wind" phenomenon, owing to the improved delivery of extra-muscular fuels during exercise. The present review will cover what this disease can teach us about exercise physiology, and particularly focuses on the compensatory pathways for energy delivery to muscle in the absence of glycogenolysis.
肌磷酸化酶缺乏症（糖原贮积症 V 型；MD）是一种由肌肉糖原磷酸化酶缺乏引起的代谢性肌病。由于肌肉糖原是运动中肌肉的重要燃料，这种先天性代谢错误为理解糖原在肌肉功能中的作用以及对糖原分解受损的代偿适应提供了一个模型。MD 患者运动耐量下降，症状包括过早疲劳、肌肉疼痛和/或肌肉痉挛。尽管如此，MD 患者能够进行长时间运动，这是由于“第二次呼吸”现象，即由于运动中肌肉外燃料的输送改善。本综述将介绍这种疾病可以为我们提供的关于运动生理学的知识，特别是侧重于在没有糖原分解的情况下向肌肉提供能量的代偿途径。
