Barca Emanuele, Emmanuele Valentina, DiMauro Salvatore Billi
Department of Neurology, Columbia University, New York, NY, USA,
Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9.
One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. Differential diagnosis is required to distinguish the three conditions, although all cause a crisis of muscle energy. Muscle biopsy may be useful when performed well after the episode of rhabdomyolysis. Molecular genetics is increasingly the diagnostic test of choice to discover the underlying genetic basis.
一大类以反复出现肌红蛋白尿为特征的遗传性肌病，几乎总是由运动引发，包括两种主要供能物质（糖原和长链脂肪酸）的代谢紊乱，或呼吸链的线粒体疾病。尽管这三种情况都会引发肌肉能量危机，但需要进行鉴别诊断以区分它们。在横纹肌溶解发作后很久进行肌肉活检可能会有所帮助。分子遗传学越来越成为发现潜在遗传基础的首选诊断测试。
