Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is a nuclear-encoded gene that produces a protein involved in mitochondrial translation. MTFMT formylates a portion of Met-tRNA^Met, which allows for translation initiation of mitochondrial mRNA. Mutations in this gene have been shown to result in decreased mitochondrial translation with reduction function of the electron transport chain complexes I, III, IV, and V, thus affecting cellular energy production. Our patient presented with severe lactic acidosis in the neonatal period, and was found to be homozygous for the pathogenic mutation c.994C > T, p.(Arg332*). Her blood lactate levels normalized and her cardiomyopathy reversed after initiation of dichloroacetate (30 mg/kg/day). After two years of follow-up, she continues to show long-term lactate stability, continues to make developmental gains, and is in overall good general health. This is the first report using dichloroacetate in a patient with MTFMT deficiency, which may be a potential therapeutic option that warrants further study.

线粒体甲硫氨酰-tRNA甲酰基转移酶（MTFMT）是一种核编码基因，可产生涉及线粒体翻译的蛋白质。MTFMT将Met-tRNA ^Met的一部分甲酰化，它可以启动线粒体mRNA的翻译。已显示该基因的突变导致线粒体翻译减少，同时电子转运链复合物I，III，IV和V的功能降低，从而影响细胞能量的产生。我们的患者在新生儿期出现严重的乳酸性酸中毒，发现其病原性突变为c.994C> T，p。（Arg332 *）是纯合的。服用二氯醋酸盐（30 mg / kg /天）后，她的血液乳酸水平恢复正常，心肌病逆转。经过两年的随访，她继续表现出长期的乳酸稳定性，继续取得发展，并且总体健康状况良好。这是MTFMT缺乏症患者使用二氯乙酸盐的第一份报告，