Eymard B, Laforêt P
Fédération de neurologie Mazarin, hôpital de la Salpêtrière, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
Rev Med Interne. 2001 Dec;22 Suppl 3:328s-337s.
Metabolic myopathies are due to deficiencies of energy production involving glycogen, lipid, or mitochondrial metabolism. Deficiency of sarcoplasmic calcium-ATPase is at the origin of Brody's syndrome. Patients may present with exercise intolerance, myoglobinuria or progressive muscle weakness. The first step of diagnosis relies on the performance of in vivo metabolism investigations: forearm or bicycle ergometer exercise tests, phosphorus nuclear magnetic resonance spectroscopy. A few enzymatic defects may be directly measured on blood sampling, but muscle biopsy is necessary in most cases in order to precise the etiology of the metabolic defect through enzymatic assays. We present a description of the main metabolic myopathies with an overview of clinical and laboratory evaluation leading to diagnosis.
代谢性肌病是由于涉及糖原、脂质或线粒体代谢的能量产生缺陷所致。肌浆网钙 -ATP酶缺乏是布罗迪综合征的病因。患者可能出现运动不耐受、肌红蛋白尿或进行性肌肉无力。诊断的第一步依赖于进行体内代谢检查：前臂或自行车测力计运动试验、磷核磁共振波谱分析。少数酶缺陷可通过血液采样直接检测，但在大多数情况下，为了通过酶分析精确代谢缺陷的病因，肌肉活检是必要的。我们对主要的代谢性肌病进行了描述，并概述了导致诊断的临床和实验室评估。
