目的 探讨GTPBP3基因变异导致线粒体病的临床和遗传学特征。方法 报告1例GTPBP3基因变异致 线粒体翻译缺损相关患儿的临床资料，并复习相关文献。结果 女性患儿，3岁4月龄，入院时表现为严重乳酸酸中毒 （乳酸29 mmol/L）、呼吸衰竭、心肌损害和卒中样发作综合征。头颅磁共振示双侧皮质脊髓束对称性异常信号。入院后 予机械通气，B族维生素、辅酶Q10、左卡尼汀改善代谢，并行血液透析。经治疗后患儿血乳酸显著降低，病情平稳出院。 基因检测显示患儿GTPBP 3基因存在杂合变异c. 785 A>C（p.Q 262 p）和c. 1169 delG（p.G 390 Efs* 16），分别来自母亲 和父亲（均为杂合状态）。结论 基因检测能明确诊断GTPBP3基因变异相关线粒体病；改善线粒体代谢，必要时血液 透析是治疗线粒体病患儿代谢危象的有效方法。

Objective To analyze the clinical and genetic characteristics of GTPBP3 gene mutation associated with mitochondrial translation defect. Methods The clinical characteristics of a female preschool child related to mitochondrial translation defect caused GTPBP3 gene mutation were concluded. And related literature was reviewed. Results The child was hospitalized for pale face, dyspnea 3 hours and convulsion once, presented with severe lactic acidosis (arterial blood gas-lactic acid was 29 mmol/L), respiratory failure, myocardial damage and stroke-like syndrome. Brain MRI showed abnormal symmetry signal of bilateral cortical spinal tract. After ventilator assisted respiration, B group of vitamins, coenzyme Q10 , L-carnitine to improve metabolism and hemodialysis, the blood lactic acid dropped markedly. Her condition was gradually improved, eventually she was discharged from hospital. This disease was confirmed by molecular genetic test. Mutation of c.785 A>C (p.Q 262 P) and c. 1169 delG (p.G 390 Efs* 16 ) were detected in GTPBP 3 gene in this child, which were inherited from her mother and father respectively. Conclusion The hereditary disease should be highly suspected in patients with these symptoms. Gene analysis can help to clarify diagnosis. Improving mitochondrial metabolism and hemodialysis, if necessary, is an effective therapeutic tool to improve metabolic crisis in these children.