Biallelic pathogenic variants in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) PARS2 are associated with mitochondrial cytopathy. Here, we report the tenth case of an individual with biallelic PARS2 pathogenic variants, detected by exome sequencing (ES), and a literature review of ten cases of PARS2 mutations. Our patient displayed symptoms and clinical and laboratory findings similar to those reported previously with normal lactate levels. These symptoms included seizure disorder (which was managed with antiepileptics), developmental delay, and progressive cardiomyopathy which manifested at 19 years of age. The patient received a vitamin regimen including antioxidants as part of his treatment regimen. While further studies are required to conclusively establish the beneficial role of vitamin and cofactor administration on the mitochondria in PARS2-associated mitochondrial disease, these factors may have delayed the onset of cardiomyopathy.

线粒体氨酰基-tRNA合成酶（mt-aaRS）PARS2中的双等位基因致病变异与线粒体细胞病变有关。在这里，我们报告通过外显子组测序（ES）检测到的具有双等位基因PARS2致病性变异的个体的第十例，并对十例PARS2进行文献综述突变。我们的患者表现出的症状以及临床和实验室检查结果与以前报道的乳酸水平正常的情况相似。这些症状包括癫痫发作（由抗癫痫药控制），发育迟缓和进行性心肌病，表现为19岁。该患者接受了包括抗氧化剂在内的维生素治疗方案作为治疗方案的一部分。虽然需要进一步的研究来最终确定维生素和辅因子给药对PARS2相关的线粒体疾病中线粒体的有益作用，但这些因素可能延迟了心肌病的发作。