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. 2024 May 28:15:1395988.
doi: 10.3389/fgene.2024.1395988. eCollection 2024.

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Dongjuan Wang  1 , Juan Zhang  1 , Rui Yang  1 , Dayong Zhang  1 , Ming Wang  1 , Chaowen Yu  1 , Jingli Yang  2 , Wenxia Huang  1 , Shan Liu  1 , Shi Tang  1 , Xiaoyan He  1
Affiliations

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Dongjuan Wang et al. Front Genet. .

Erratum in

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.

Keywords: disease spectrum; genetic characteristics; inborn errors of metabolism; newborn screening; tandem mass spectrometry.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Schematic overview of the study. LC-MS/MS, liquid chromatography-tandem mass spectrometry; GC-MS/MS, gas chromatography-mass spectrometry; OAMD, organic acid metabolism disorder; AAMD, amino acid metabolism disorder; FAOD, fatty acid oxidation disorder.
FIGURE 2
FIGURE 2
Disease spectrum and distribution of the 58 confirmed IEM cases. IEM, inborn errors of metabolism; OAMD, organic acid metabolism disorder; AAMD, amino acid metabolism disorder; FAOD, fatty acid oxidation disorder; MMA, methylmalonic acidemia; PA, propionic acidemia; IVA, isovaleric acidemia; MCCD, 3-methylcrotonyl-coenzyme A carboxylase deficiency; SBCAD, 2-methylbutanoyl-coenzyme A dehydrogenase deficiency; NICCD, neonatal intrahepatic cholestasis caused by citrin deficiency; MSUD, maple syrup urine disease; OTCD, ornithine transcarbamylase deficiency; PHD, phenylalanine hydroxylase deficiency; NKH, non-ketotic hyperglycinemia; CPS1D, carbamyl phosphate synthase I deficiency; VLCADD, very long-chain acyl-coenzyme A dehydrogenase deficiency; SCADD, short-chain acyl-coenzyme A dehydrogenase deficiency.
FIGURE 3
FIGURE 3
Clinical biochemistry, clinical manifestations, and prognosis of the 58 confirmed IEM cases. FAOD, fatty acid oxidation disorder; AAMD, amino acid metabolism disorder; OAMD, organic acid metabolism disorder.
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