Newborn screening, gene variation analysis and follow-up study of very long chain acyl CoA dehydrogenase deficiency
10.3760/cma.j.cn101070-20200816-01353
- VernacularTitle:极长链酰基辅酶A脱氢酶缺乏症的筛查、基因变异分析及随访研究
- Author:
Xiaole LI
1
;
Shubo LYU
;
Linlin ZHANG
;
Xinyun ZHU
;
Yuan TIAN
;
Min NI
;
Suna LIU
;
Yizhuo XU
;
Jie ZHANG
;
Jun WANG
;
Dehua ZHAO
Author Information
1. 郑州大学第三附属医院河南省新生儿疾病筛查中心，郑州 450052
- Keywords:
Very long chain acyl CoA dehydrogenase;
Newborn screening;
ACADVL gene;
Mutation analysis
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(23):1815-1819
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the prevalence, gene variation and prognosis of very long chain acyl CoA dehydrogenase deficiency (VLCADD) in newborns in Henan Province.Methods:From January 2013 to December 2019, 867 103 newborns were investigated for VLCADD by tandem mass spectrometry.Children who diagnosed as VLCADD and their families were subjected to next-generation sequencing and Sanger sequencing.Clinical data, biochemical changes and gene variation characteristics of the confirmed cases of VLCADD were analyzed.Dietary guidance was given, and their growth and development were followed up.Results:Six neonates were diagnosed as VLCADD, and the prevalence of VLCADD in the Henan Province was 1/144 517.A total of 11 mutations in the ACADVL gene were found, including 5 new variants c. 692-2_692-1delAG, c.753-23_753-22del, c.960delG, c.1361A>G, and c. 1955C>T.The newborns were given a high-carbohydrate, low-fat diet, and followed up for 8-56 months.Except for two deaths, all patients had a good outcome. Conclusions:The prevalence of neonatal VLCADD in Henan Province is 1/144 517.This results has enriched the ACADVL gene mutation spectrum and provided an important basis for the screening and diagnosis of VLCADD.
