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目的:总结1例联合氧化磷酸化缺陷症28型(COXPD-28)患儿的临床表现和n SLC25A26基因变异特点，结合文献复习为该病的诊断和遗传咨询提供依据。n 方法:回顾性分析2020年10月郑州大学第三附属医院确诊的1例COXPD-28患儿的临床资料，并以“联合氧化磷酸化缺陷症28型、n SLC25A26基因”或“Combined oxidative phosphorylation deficiency 28、n SLC25A26 gene”为检索词查阅国内外数据库，总结COXPD-28的临床特点及n SLC25A26基因变异特点。n 结果:1．患儿，女，出生后30 min，足月顺产娩出，因出生后呻吟呼吸入院，主要表现为面色苍白、呻吟呼吸、代谢性酸中毒、乳酸高、丙酮酸升高，给予呼吸支持、青霉素预防感染，病情进行性加重，出现呼吸循环衰竭，入院当天死亡。患儿为n SLC25A26基因的复合杂合突变，第5外显子终止突变c.403G>T致蛋白改变为p.E135，第4外显子非同义变异c.212A>G致蛋白改变为p.Y71C，为首次报道。2.检索中英文文献，共检索到3例COXPD-28患儿，国内尚未见该病例报道。临床特点总结：3例患儿均有呼吸循环衰竭、乳酸升高，丙酮酸升高，肌肉活检多见线粒体复合物Ⅰ、Ⅲ、Ⅳ下降，共有2种不同突变类型，错义突变3例，剪接突变1例。n 结论:COXPD-28是一种常染色体隐性遗传的多系统受累疾病，与线粒体功能障碍有关，n SLC25A26基因变异是其致病原因。n “,”Objective:To summarize the clinical manifestations of a case of combined oxidative phosphorylation deficiency 28 (COXPD-28) caused by the mutations of the n SLC25A26 gene, thus providing references for the diagnosis and genetic counseling of the disease.n Methods:Clinical data of a case of COXPD-28 treated in the Third Affiliated Hospital of Zhengzhou University in October 2020 were retrospectively analyzed.In addition, The retrieval words “ Combined oxidative phosphorylation deficiency 28, n SLC25A26 gene” were used to search domestic and foreign databases.The clinical characteristics of combined phosphorylation deficiency 28 and the variation characteristics ofn SLC25A26 gene were summarized.n Results:(1) A female patient full-term delivered after 30 min presented with groaning breath was admitted.Her main manifestations included pale complexion, groaning breathing, metabolic acidosis, and high lactate and pyruvate levels.Symptomatic support treatment like anti-infection and assisted ventilation were given, but her condition gradually worsened and died of respiratory and circulatory failure on the day of admission.The child was compound heterozygous mutation of n SLC25A26 gene, the terminating mutation of exon 5 c. 403G>T caused the protein change to p. E135, and the non-synonymous mutation of exon 4 c. 212A>G caused the protein change to p. Y71C.(2) A total of 3 cases of COXPD-28 were searched in online databases, and no cases were reported in China.Through literature review, clinical features of COXPD-28 mainly included respiratory and circulatory fai-lure, elevations of lactate and pyruvate, and reductions of complexes Ⅰ, Ⅲ and Ⅳ in muscle biopsy.Two types of mutations in then SLC25A26 gene were detected, including 3 cases of missense mutations and 1 case of splicing mutation.n Conclusions:COXPD-28 is an autosomal recessive genetic disease involving multiple systems and mitochondrial dysfunction.Mutations in the n SLC25A26 gene is the pathological cause of COXPD-28.n