摘要： 目的 评价代谢性肌病之临床治疗方案及可能出现的药物不良反应，为其循证治疗制定最佳方案。方法 以代谢性肌病（metabolic myopathy）、线粒体肌病（mitochondrial myopathy）、脂质沉积性肌病（lipid storage myopathy）、糖原贮积病（glycogen storage dieases）、内分泌性肌病（endocrinemyopathy）、药物毒性肌病（drug toxicity myopathy）、治疗（treatment）等中英文词汇为检索词，检索美国国立医学图书馆（PubMed）、英国Cochrane 图书馆、ClinicalKey 数据库、国家科技图书文献中心等数据库中有关代谢性肌病（包括线粒体肌病、脂质沉积性肌病、糖原贮积病、内分泌性肌病、药物毒性肌病）治疗相关临床指南、系统评价、随机对照试验、临床对照试验、回顾性病例分析和病例观察研究，采用Jadad 量表进行文献质量评价。结果 经筛选共纳入28 篇文献（临床指南6 篇、系统评价5 篇、随机对照试验10 篇、临床对照试验7 篇），其中23 篇为高质量文献（≥ 4 分）、5 篇为低质量文献（< 4 分）。对其治疗原则、不同方法获得的疗效及安全性评价显示：（1）糖原贮积病主要采用α-葡糖苷酶替代治疗，同时进食高蛋白饮食，运动前服用少量果糖，逐渐减少患者体力活动。（2）脂质沉积性肌病可补充肉碱，运动前或运动时补充碳水化合物，日常低脂饮食。（3）线粒体肌病可予辅酶Q10、B 族维生素、维生素K、维生素C 等，适当的有氧运动结合力量训练可以更安全、有效地提高患者的运动耐受性。（4）内分泌性肌病需首先治疗原发病。（5）药物毒性肌病需停用致病药物。结论 代谢性肌病多为遗传性疾病，其治疗的根本出路是基因治疗；内分泌性肌病和药物毒性肌病需治疗原发病或停用致病药物。鉴于此，需借助循证医学方法为代谢性肌病提供最佳临床证据。

关键词: 糖原贮积病, 脂质贮积病, 线粒体肌病, 神经肌肉疾病, 循证医学

Abstract: Objective  To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.  Methods  Taking metabolic myopathy, mitochondrial myopathy, lipid storage myopathy, glycogen storage diseases, endocrine myopathy, drug toxicity myopathy and treatment as search terms, retrieve in databases such as PubMed, Cochrane Library, ClinicalKey database, National Science and Technology Library (NSTL), in order to collect the relevant literature database including clinical guidelines, systematic reviews (SR), randomized controlled trials (RCT), controlled clinical trials, retrospective case analysis and case study. Jadad Scale was used to evaluate the quality of literature.  Results  Twenty-eight related articles were selected, including 6 clinical guidelines, 5 systematic reviews, 10 randomized controlled trials and 7 clinical controlled trials. According to Jadad Scale, 23 articles were evaluated as high-quality literature (≥ 4), and the remaining 5 were evaluated as low-quality literature (< 4). Treatment principles of these clinical trials, efficacy of different therapies and drug safety evaluation suggest that: 1) Acid α-glycosidase (GAA) enzyme replacement therapy (ERT) is the main treatment for glycogen storage diseases, with taking a high-protein diet, exercising before taking a small amount of fructose orally and reducing the patient's physical activity gradually. 2) Carnitine supplementation is used in the treatment of lipid storage myopathy, with carbohydrate and low fat diet provided before exercise or sports. 3) Patients with mitochondrial myopathy can take coenzyme Q10, vitamin B, vitamin K, vitamin C, etc. Proper aerobic exercise combined with strength training is safe, and it can also enhance the exercise tolerance of patients effectively. 4) The first choice to treat the endocrine myopathy is treating primary affection. 5) Myopathies due to drugs and toxins should remove pathogenic drugs and toxins. Conclusions  Most of metabolic myopathies are genetic diseases, and they cannot achieve a radical cure at present. Gene therapy is the fundamental way. Endocrine myopathy and drug toxicity myopathy need to remove the primary affection or pathogenic drugs. Evidence-based medicine can provide the best clinical evidence assessment method for metabolic myopathy.

Key words: Glycogen storage disease, Lipidoses, Mitochondrial myopathies, Neuromuscular diseases, Evidence-based medicine