PDF(Pubmed)
Abstract：
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.
摘要：
先天性代谢错误（IEM）并不常见。尽管一些研究已经探讨了新生儿中IEM的分布和特征，这些疾病对住院新生儿的影响尚不清楚.在这项研究中,我们收集了2017年1月至2022年12月在重庆医科大学儿童医院因各种疾病入院的21,840名新生儿患者的数据。液相色谱-串联质谱(LC-MS/MS),气相色谱-质谱(GC-MS/MS),和遗传分析被用来阐明疾病谱，发病率，住院新生儿IEM的遗传特征。结果显示，住院新生儿中IEM的发生率为1/377（58/21,840），足月婴儿（1/428）的发病率高于早产儿（1/3,120）。在诊断的遗传代谢疾病中，有机酸代谢紊乱（1/662），氨基酸代谢紊乱（1/950），和脂肪酸氧化紊乱(1/10,920)是最普遍的。甲基丙二酸血症（MMA），尤其是孤立的形式，成为最常见的IEM，而由citrin缺乏症（NICCD）和鸟氨酸转碳淀粉酶缺乏症（OTCD）引起的新生儿肝内胆汁淤积在早产儿中普遍存在。在58例确诊的IEM病例中，确定了72种变体，其中31.94%(23/72)以前没有报告过。这项研究有助于了解住院新生儿IEM的发生率和临床特征，为筛查和诊断这些疾病提供更有效的策略。
