Vorgerd Matthias
Department of Neurology, Ruhr-University Bochum, Kliniken Bergmannsheil, Bochum, Germany.
Neurotherapeutics. 2008 Oct;5(4):579-82. doi: 10.1016/j.nurt.2008.08.006.
Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review of evidence from randomized controlled trials in McArdle disease (glycogen storage disease type V, muscle phosphorylase deficiency) and carnitine palmitoyltransferase (CPT) 2 deficiency. A brief overview on current treatment options in rhabdomyolysis is also included because patients with McArdle disease and CPT 2 often experience such potentially life-threatening complications.
患有代谢性肌病的成年患者通常表现为运动诱发的疼痛、痉挛、疲劳和肌红蛋白尿。糖原和脂质贮积性肌病目前的治疗选择包括饮食治疗、运动训练和药物补充。本文综述了来自麦克尔迪氏病（糖原贮积病V型，肌肉磷酸化酶缺乏症）和肉碱棕榈酰转移酶（CPT）2缺乏症的随机对照试验证据。还简要概述了横纹肌溶解症目前的治疗选择，因为麦克尔迪氏病和CPT 2缺乏症患者经常会出现这种可能危及生命的并发症。
