串联质谱技术测定C5酰基肉碱水平在新生儿短链酰基辅酶A脱氢酶缺乏症筛查中的应用  

Screening of C5 acylcarnitine level determined by tandem mass spectrometry in neonatal short-chain acyl-CoA dehydrogenase deficiency

作　　者：宋燕红 张琪 容翠环 林贞[3] SONG Yan-hong;ZHANG Qi;RONG Cui-huan;LIN Zhen(Department of Women and Child Healthcare,the Second People's Hospital of Xinhui,Jiangmen 529100,China;Department of Pediatrics,Maternity and Child Health Hospital of Xinhui,Jiangmen 529100,China;Department of Child Healthcare,Maternity and Child Health Hospital of Xinhui,Jiangmen 529100,China)

机构地区：[1]江门市新会区第二人民医院妇女儿童保健科,广东江门529100 [2]江门市新会区妇幼保健院儿科,广东江门529100 [3]江门市新会区妇幼保健院儿童保健科,广东江门529100

出　　处：《广东医科大学学报》2021年第6期729-731,共3页Journal of Guangdong Medical University

摘　　要：目的了解串联质谱技术测定C5酰基肉碱水平在新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)筛查中的作用。方法选取2015年1月至2020年6月江门地区出生且自愿接受串联质谱技术筛查的新生儿81452例,以C5酰基肉碱截止值≥0.44μmol/L作为SCADD的鉴定标准。随机抽取1130例新生儿干血样筛查标本进行突变分析以确定新生儿短/支链酰基辅酶a脱氢酶(ACADSB)基因c.1165 A>G突变的患病率。结果81452例新生儿中共检测出97例C5酰基肉碱截止值≥0.44μmol/L,其中SCADD 92例,异戊酸血症(IVA)5例。1130例汉族新生儿筛查样本中,876例(77.5%)为野生型,248例(22.0%)为杂合子,6例(0.5%)为常见c.1165 A>G突变纯合子。ROC曲线结果显示,C5酰基肉碱浓度截止值为0.44μmol/L时的敏感度和特异度分别为60.0%和100.0%。结论串联质谱技术测定C5酰基肉碱水平能够准确筛查SCADD,且有助于区分SCADD和IVA。Objective To explore the effect of C5 acylcarnitine level determined by tandem mass spectrometry in neonatal short-chain acyl-CoA dehydrogenase deficiency(SCADD).Methods A total of 81,452 newborns screened by tandem mass spectrometry from January 2015 to June 2020 in Jiangmen were selected as subjects,with the C5 acylcarnitine cutoff value≥0.44μmol/L as the criteria for the determination of SCADD.Mutation analysis was performed to determine the prevalence of short/branched chain acyl-CoA dehydrogenase(ACADSB)gene c.1165 A>G mutation in the dry blood samples of 1,130 newborns.Results Among 81,452 newborns,97 had the C5 acylcarnitine cutoff value≥0.44μmol/L,of which there were 92 cases with SCADD and 5 cases with isovaleric academia(IVA).Among the screening samples in 1130 Chinese newborns,876 cases(77.5%)were wide type,248 cases(22.0%)were heterozygous,and 6 cases(0.5%)were homozygous with common c.1165 A>G mutation.The ROC curve showed that the sensitivity and specificity were 60%and100%when the C5 acylcarnitine cutoff value was 0.44μmol/L.Conclusion C5 acylcarnitine level determined by tandem mass spectrometry can accurately screen out SCADD and help to distinguish SCADD from IVA.

关 键 词：短链/支链酰基辅酶A脱氢酶缺乏症 2-甲基丁酰-辅酶A脱氢酶缺乏症 新生儿筛查 异戊酸血症 

分 类 号：R722.11[医药卫生—儿科]