[Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha].

Abstract

OBJECTIVE:

To retrospectively analyze the screening results for genetic metabolic diseases among newborns from Changsha in order to determine the prevalence of single diseases and their mutational spectrum.

METHODS:

352 449 neonates born from January 2016 to December 2021 in Changsha were subjected to tandem mass spectrometry. Suspected cases were further analyzed by biochemical and genetic testing.

RESULTS:

Among the 352 449 newborns, 6 170 were positive for the screening, which yielded a positive rate of 1.75%. 5 437 cases were recalled, and 92 were confirmed, with the overall prevalence being 1∶3 831 and positive predictive value of 1.69%. Eighteen genetic metabolic diseases were detected among the 92 children, including 33 amino acid metabolic disorders, among which 20 were phenylalanine hydroxylase deficiency (60.60%). 17 cases had organic acid metabolic disorders, among which 4 were 2-methyl-dehydrogenase deficiency (23.50%). 42 had fatty acid metabolic disorders, among which 27 (64.30%) were primary carnitine deficiency and 12 were short-chain acyl-CoA dehydrogenase deficiency (28.60%). In total 90 genetic variants were identified, with the most common ones including c.51C>G, c.1400C>G, c.760C>T, c.1031A>G and c.1165A>G.

CONCLUSION:

The common neonatal genetic metabolic diseases in Changsha include primary carnitine deficiency, phenylalanine hydroxylase deficiency and short-chain acyl-CoA dehydrogenase deficiency. The preliminary delineation of mutational spectrum for genetic metabolic diseases in Changsha can facilitate early diagnosis and intervention, so as to improve the quality of newborn population.

• Authors: Xia Li, Ling He, Yuting Sun, Xuzhen Huang, Yechao Luo, Yujiao Li, Shihao Zhou, Yudong Zeng, Jun He
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 40 Issue 9 Pg. 1075-1085 (Sep 10 2023) ISSN: 1003-9406 [Print] China
• PMID: 37643952 (Publication Type: English Abstract, Journal Article)

Topics

• Infant, Newborn
• Child
• Humans
• Retrospective Studies
• Metabolic Diseases (diagnosis, genetics)
• Lipid Metabolism, Inborn Errors (diagnosis, genetics)
• Phenylketonurias (diagnosis, genetics)