Abstract：
Coenzyme Q10 (CoQ10 ) is necessary for mitochondrial electron transport. Mutations in CoQ10 biosynthetic genes cause primary CoQ10 deficiency (PCoQD) and manifest as mitochondrial disorders. It is often stated that PCoQD patients can be treated by oral CoQ10 supplementation. To test this, we compiled all studies describing PCoQD patients up to May 2022. We excluded studies with no data on CoQ10 treatment, or with insufficient description of effectiveness. Out of 303 PCoQD patients identified, we retained 89 cases, of which 24 reported improvements after CoQ10 treatment (27.0%). In five cases, the patient\'s condition was reported to deteriorate after halting of CoQ10 treatment. 12 cases reported improvement in the severity of ataxia and 5 cases in the severity of proteinuria. Only a subjective description of improvement was reported for 4 patients described as responding. All reported responses were partial improvements of only some symptoms. For PCoQD patients, CoQ10 supplementation is replacement therapy. Yet, there is only very weak evidence for the efficacy of the treatment. Our findings, thus, suggest a need for caution when seeking to justify the widespread use of CoQ10 for the treatment of any disease or as dietary supplement.
摘要：
辅酶Q10(CoQ10)是线粒体电子传递所必需的。CoQ10生物合成基因的突变导致原发性CoQ10缺乏症（PCoQD）并表现为线粒体疾病。通常说PCoQD患者可以通过口服CoQ10补充来治疗。为了测试这个，我们汇总了截至2022年5月所有描述PCoQD患者的研究.我们排除了没有CoQ10治疗数据的研究，或者有效性描述不足。在303名PCoQD患者中，我们保留了89个案例,其中24例报告辅酶Q10治疗后有所改善（27.0%）。在五个案例中，据报道，患者的病情在停止辅酶Q10治疗后恶化。共济失调严重程度改善12例，蛋白尿严重程度改善5例。仅报告了4名被描述为响应的患者的改善的主观描述。所有报告的反应仅是一些症状的部分改善。对于PCoQD患者，补充辅酶Q10是替代疗法。然而，只有非常微弱的证据证明这种治疗的疗效。我们的发现,因此，建议在寻求证明CoQ10广泛用于治疗任何疾病或作为膳食补充剂时需要谨慎。
