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. 2018 Apr 20:9:122.
doi: 10.3389/fgene.2018.00122. eCollection 2018.

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Kejian Guo  1 , Xuan Zhou  2   3 , Xigui Chen  1 , Yili Wu  2   3   4 , Chuanxin Liu  2   4 , Qingsheng Kong  4   5
Affiliations

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Kejian Guo et al. Front Genet. .

Abstract

The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (PAH), solute carrier family 22 member 5 (SLC22A5), and methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria (MMACHC) genes, respectively, it suggested that mutations in the PAH, SLC22A5, and MMACHC genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. Our work indicated that the overall incidence of IEMs is high and the mutations in PAH, SLC22A5, and MMACHC genes are the leading causes of IEMs in Jining area. Therefore, it is critical to increase the coverage of expanded newborn screening by MS/MS and prenatal genetic consulting in Jining area.

Keywords: IEMs-associated gene mutation; inborn errors of metabolism; incidence of IEMs; newborn screening.

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References

    1. Applegarth D. A., Toone J. R., Lowry R. B. (2000). Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105:e10. 10.1542/peds.105.1.e10 - DOI - PubMed
    1. Bennett M. J. (2009). Follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry. Clin. Biochem. 55 1615–1626. 10.1373/clinchem.2009.131300 - DOI - PubMed
    1. Campeau P. M., Scriver C. R., Mitchell J. J. (2008). A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. Mol. Genet. Metab. 95 11–16. 10.1016/j.ymgme.2008.07.001 - DOI - PubMed
    1. Dietzen D. J., Rinaldo P., Whitley R. J., Rhead W. J., Hannon W. H., Garg U. C., et al. (2009). National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin. Chem. 55 1615–1626. 10.1373/clinchem.2009.131300 - DOI - PubMed
    1. Fan X., Chen S. B., Luo J., Li W., Lin F., Luo C., et al. (2013). Application of tandem mass spectrometry in genetic metabolism screening in Nanning, Guangxi. J. Guangxi Med. Univ. 30 756–758. 10.16190/j.cnki.45-1211/r.2013.05.055 - DOI