Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
作者全名：Wang, Dongjuan; Zhang, Juan; Yang, Rui; Zhang, Dayong; Wang, Ming; Yu, Chaowen; Yang, Jingli; Huang, Wenxia; Liu, Shan; Tang, Shi; He, Xiaoyan
作者地址：[Wang, Dongjuan; Zhang, Juan; Yang, Rui; Zhang, Dayong; Wang, Ming; Yu, Chaowen; Huang, Wenxia; Liu, Shan; Tang, Shi; He, Xiaoyan] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Minist Educ Key Lab Child Dev & Disorders, Ctr Clin Mol Med,Childrens Hosp,Chongqing Key Lab, Chongqing, Peoples R China; [Yang, Jingli] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Pediat,Minist Educ,Dept Neonatol, Chongqing, Peoples R China
通信作者：He, XY (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Minist Educ Key Lab Child Dev & Disorders, Ctr Clin Mol Med,Childrens Hosp,Chongqing Key Lab, Chongqing, Peoples R China.
来源：FRONTIERS IN GENETICS
ESI学科分类：MOLECULAR BIOLOGY & GENETICS
WOS号：WOS:001242404900001
JCR分区：Q2
影响因子：2.8
年份：2024
卷号：15
期号：
开始页：
结束页：
文献类型：Article
关键词：inborn errors of metabolism; newborn screening; disease spectrum; genetic characteristics; tandem mass spectrometry
摘要：Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children's Hospital of Chongqing Medical University from January 2017 and December 2022. Liquid chromatography-tandem mass spectrometry (LC-MS/MS), gas chromatography-mass spectrometry (GC-MS/MS), and genetic analysis were used to elucidate the disease spectrum, incidence rate, and genetic characteristics of IEMs in hospitalized newborns. The results revealed that the incidence of IEMs in hospitalized newborns was 1/377 (58/21,840), with a higher incidence in full-term infants (1/428) than in premature infants (1/3,120). Among the diagnosed genetic metabolic diseases, organic acid metabolism disorders (1/662), amino acid metabolism disorders (1/950), and fatty acid oxidation disorders (1/10,920) were the most prevalent. Methylmalonic acidemia (MMA), especially the isolated form, emerged as the most common IEM, while neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and ornithine transcarbamylase deficiency (OTCD) were prevalent in premature infants. Of the 58 confirmed cases of IEMs, 72 variants were identified, of which 31.94% (23/72) had not been reported previously. This study contributes to understanding the incidence and clinical features of IEMs in hospitalized newborns, offering more efficient strategies for screening and diagnosing these disorders.
基金机构：General Basic Research Project from the Ministry of Education Key Laboratory of Child Development and Disorders [GBRP-202103]; Chongqing youth and middle-aged medical high-end talent project [202129]; Chongqing Bureau of Science and Technology; Chongqing Municipal Health Commission [2024GDRC004]
基金资助正文：We thank Professor Xiaohua Liang from the Children's Hospital of Chongqing Medical University, for the assistance and support in statistical methods and data analysis involved in this study.r The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work was supported by the General Basic Research Project from the Ministry of Education Key Laboratory of Child Development and Disorders (No. GBRP-202103), the Chongqing youth and middle-aged medical high-end talent project (No. 202129), and the Chongqing Bureau of Science and Technology and Chongqing Municipal Health Commission joint research project (No. 2024GDRC004).
