背景：代谢性肌病是一组异质性的肌肉疾病，通常以运动不耐受为特征，肌痛和进行性肌肉无力。对其中一些疾病有有效的治疗方法，但是，虽然我们对与糖原储存有关的代谢性肌病的发病机制的理解，脂质代谢和β-氧化是公认的，缺乏将治疗与精确的致病遗传缺陷联系起来的证据。
目的：本研究的目的是整理所有已发表的关于上述代谢性肌病的药物治疗的证据，并将其与基因突变联系起来，其格式适合数据库化，以便根据“治疗代谢组”项目的原则进一步计算使用。
方法：进行了系统的文献综述，以检索所有水平的证据，以检查药物治疗与糖原储存和脂质代谢相关的代谢性肌病的疗效。一个关键的纳入标准是治疗患者的遗传变异的可用性，以便将治疗结果与遗传缺陷联系起来。
结果：在最初确定的1,085篇文章中，268篇全文进行了资格评估，其中87项被转入最终的数据提取。研究最多的代谢性肌病是庞皮病(45篇)，与ETFDH基因突变相关的多酰基辅酶A脱氢酶缺乏症（15篇）和系统性原发性肉碱缺乏症（8篇）。这些疾病研究最多的治疗管理策略是酶替代疗法，核黄素,和肉碱补充剂，分别。
结论：本系统综述为与遗传缺陷相关的代谢性肌病的治疗提供了证据，该证据适用于治疗代谢组系统的数据库，这将使临床医生在诊断时获得有关患者适当治疗选择的证据。
BACKGROUND: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are available, but while our understanding of the pathogenesis of metabolic myopathies related to glycogen storage, lipid metabolism and β-oxidation is well established, evidence linking treatments with the precise causative genetic defect is lacking.
OBJECTIVE: The objective of this study was to collate all published evidence on pharmacological therapies for the aforementioned metabolic myopathies and link this to the genetic mutation in a format amenable to databasing for further computational use in line with the principles of the \"treatabolome\" project.
METHODS: A systematic literature
review was conducted to retrieve all levels of evidence examining the therapeutic efficacy of pharmacological treatments on metabolic myopathies related to glycogen storage and lipid metabolism. A key inclusion criterion was the availability of the genetic variant of the treated patients in order to link treatment outcome with the genetic defect.
RESULTS: Of the 1,085 articles initially identified, 268 full-text articles were assessed for eligibility, of which 87 were carried over into the final data extraction. The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles). The most studied therapeutic management strategies for these diseases were enzyme replacement therapy, riboflavin, and carnitine supplementation, respectively.
CONCLUSIONS: This systematic
review provides evidence for treatments of metabolic myopathies linked with the genetic defect in a computationally accessible format suitable for databasing in the treatabolome system, which will enable clinicians to acquire evidence on appropriate therapeutic options for their patient at the time of diagnosis.
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