Despite recent advances in the elucidation of etiology and pathogenesis of mitochondrial disorders, their therapeutic management remains challenging. This review focuses on currently available therapeutic options for human mitochondrial disorders. Current treatment of mitochondrial disorders relies on symptomatic, multidisciplinary therapies of various manifestations in organs such as the brain, muscle, nerves, eyes, ears, endocrine organs, heart, intestines, kidneys, lungs, bones, bone marrow, cartilage, immune system, and skin. If respiratory chain functions are primarily or secondarily impaired, antioxidants or cofactors should be additionally given one by one. All patients with mitochondrial disorders should be offered an individually tailored diet and physical training program. Irrespective of the pathogenesis, all patients with mitochondrial disorders should avoid exposure to mitochondrion-toxic agents and environments. Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Leber hereditary optic neuropathy, thiamine-responsive Leigh syndrome, primary coenzyme Q deficiency, primary carnitine deficiency, Friedreich ataxia, ethylmalonic encephalopathy, acyl-CoA dehydrogenase deficiency, pyruvate dehydrogenase deficiency, and hereditary vitamin E deficiency. Preventing the transmission of mitochondrial DNA-related mitochondrial disorders can be achieved by mitochondrion replacement therapy (spindle transfer, pronuclear transfer). In conclusion, specific and nonspecific therapies for human mitochondrial disorders are available, and beneficial effects have been anecdotally reported. However, double-blind, placebo-controlled studies to confirm effectiveness are lacking for the majority of the measures applied to mitochondrial disorders. Transmission of certain mitochondrial disorders can be prevented by mitochondrion replacement therapy. A multidisciplinary approach is required to meet the therapeutic challenges of patients with mitochondrial disorders.

尽管最近在阐明线粒体疾病的病因和发病机制方面取得了进展，但它们的治疗管理仍然具有挑战性。本综述侧重于目前可用的人类线粒体疾病治疗方案。目前对线粒体疾病的治疗依赖于各种器官表现的对症、多学科治疗，例如脑、肌肉、神经、眼睛、耳朵、内分泌器官、心脏、肠、肾、肺、骨骼、骨髓、软骨、免疫系统、和皮肤。如果呼吸链功能出现原发性或继发性受损，应逐一补充抗氧化剂或辅助因子。应为所有线粒体疾病患者提供个性化的饮食和体育锻炼计划。不论病机如何，所有线粒体疾病患者都应避免接触线粒体毒性物质和环境。可为中风样发作、线粒体癫痫、线粒体神经胃肠脑病、Leber遗传性视神经病、硫胺素反应性Leigh综合征、原发性辅酶Q缺乏症、原发性肉碱缺乏症、Friedreich共济失调、乙基丙二酸脑病、酰基辅酶A缺乏症、脱氢酶提供特定治疗丙酮酸脱氢酶缺乏症和遗传性维生素 E 缺乏症。可以通过线粒体替代疗法（纺锤体转移、原核转移）来防止线粒体 DNA 相关线粒体疾病的传播。总之，针对人类线粒体疾病的特异性和非特异性疗法是可用的，并且有传闻报道了有益的效果。然而，对于应用于线粒体疾病的大多数措施，缺乏确认有效性的双盲、安慰剂对照研究。某些线粒体疾病的传播可以通过线粒体替代疗法来预防。需要采用多学科方法来应对线粒体疾病患者的治疗挑战。