·81·临床儿科杂志2023年第41卷第2期JClinPediatrVol.41No.2Feb.2023遗传代谢病检测技术及应用选择韩连书上海交通大学医学院附属新华医院上海市儿科医学研究所儿内分泌遗传代谢科（上海200092）摘要：罕见病中的遗传代谢病是由于机体代谢过程中基因变异引起相关酶活性降低或缺乏导致底物蓄积及产物减少，引起机体生化代谢紊乱而产生一系列临床症状的一类疾病。近年来，关于遗传代谢病筛查检测技术不断更新，越来越多的遗传代谢病患者得到确诊和及时治疗，缩短了发病到治疗的时间，提高了治疗效果。文章主要介绍荧光免疫技术、串联质谱技术、气相色谱质谱技术、基因测序技术、染色体检测技术及应用选择，以提高临床医师对这些技术的了解。关键词：遗传代谢病；串联质谱；气相色谱质谱；基因检测DetectiontechnologyandapplicationselectionofgeneticmetabolicdiseasesHANLianshu(DepartmentofEndocrinologyandGeneticMetabolism,XinhuaHospital,ShanghaiInstituteforPediatricResearch,ShanghaiJiaoTongUniversitySchoolofMedicine,Shanghai200092,China.)Abstract:Inheritedmetabolicdiseasesamongrarediseases,alsoknownasinbornerrorsofmetabolism,refertotheenzymes,receptors,andcellmembranedysfunctionsinvolvedinandcausedbygeneticdefects.Thesediseasesleadtotheblockageofmetabolicpathways,andanaccumulationofintermediate,bypassproducts,oralackofterminalproducts,resultinginavarietyofclinicalsymptoms.Inrecentyears,theadvancesindetectiontechniqueshaveenabledalargernumberofpatientstobediagnosedandtreatedtimelier,shorteningthetimefromdiseaseonsettotreatmentandimprovingthequalityofoutcomes.Thisarticlefocusesonfluorescenceimmunoassaytechniques,tandemmassspectrometry,gaschromatography-massspectrometry,genesequencing,chromosomedetectiontechniquesandoptionsoftechniquesaboveforinheritedmetabolicdiseasestoimproveclinicians'understanding.Keywords:inheritedmetabolicdisease;tandemmassspectrometry;gaschromatography-massspectrometry;genedetectiondoi:10.12372/jcp.2023.22e1461·述评·罕见病种类繁多，包括各种器官畸形、综合征及功能缺陷疾病。遗传代谢病（inheritedmetabolicdisease，IMD）又称先天性代谢异常（inbornerrorsofmetabolism,IEM），属于功能缺陷型罕见病，是由于基因变异引...
