摘要目的:对1例母亲孕期产前诊断携带有父源性平衡易位而出生后拟诊为极长链酰基辅酶A脱氢酶缺乏症(very-long-chain acyl-CoA dehydrogenase deficiency，VLCADD)的患儿进行遗传学检测，分析患儿临床、生化改变，明确致病变异，为其诊断提供依据。方法:选取2024年4月30日于西北妇女儿童医院就诊的1例疑似VLCADD患儿为研究对象，采用串联质谱分析技术对患儿行检测血酰基肉碱谱，利用全外显子组测序技术对患儿进行基因变异分析。结果:监测患儿血串联质谱结果中C14：1均升高。经全外显子组测序分析，患儿 ACADVL基因存在c.752＋1G>A/c.563G>A(p.Gly188Asp)复合杂合变异，变异分别遗传自母亲和父亲，并判定为"致病性"和"疑似致病性"。根据患儿的临床表现，结合血串联质谱分析及基因检测结果，诊断为VLCADD。 结论:ACADVL基因的c.752＋1G>A/c.563G>A(p.Gly188Asp)复合杂合变异可能是该患儿的遗传学病因，其中c.752＋1G>A变异为未报道过的新变异，该变异的发现丰富了 ACADVL基因的突变谱，为临床VLCADD的筛查和诊断提供了经验。

abstractsObjective:To conduct genetic testing on a child with extremely long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and diagnosed with a paternally balanced translocation during pregnancy of her mother, analyze the clinical and biochemical changes, identify the pathogenic variation, and provide a basis for their diagnosis.Methods:A suspected VLCADD child who had presented at Northwest Women’s and Children’s Hospital on April 30, 2024 was selected as the study subjects. Using tandem mass spectrometry and whole exome sequencing.Results:C14: 1 was increased in the tandem blood MS results of the monitored children. After whole-exome sequencing analysis, the child carried the ACADVL gene with a c. 752+ 1G>A/c.563G>A(p.Gly188Asp) compound heterozygous variant, which was inherited from the mother and father, respectively, and was determined to be "pathogenic" and "suspected pathogenic". According to the clinical manifestations of the child, combined with blood tandem mass spectrometry analysis and genetic test results, he was diagnosed as VLCADD. Conclusions:The c. 752+ 1G>A/c.563G>A(p.Gly188Asp) compound heterozygous variant of ACADVL gene may be the genetic etiology of this child, including the c. 752 + 1G> A variant, and the discovery of this variant enriched the mutation spectrum of ACADVL gene and provided experience for the screening and diagnosis of clinical VLCADD.