Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population
| Autor: | Cheng-Gang Huang, Mengyi Jiang, Xianlian Jin, Wenjun Wang, Chiju Yang, Cheng Zhou, Peng Xu, Wen-Hua Liu, Xigui Chen |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine China Pediatrics medicine.medical_specialty Genetic counseling Clinical Biochemistry Reference range Biochemistry Genetic analysis 03 medical and health sciences Neonatal Screening 0302 clinical medicine Asian People Tandem Mass Spectrometry Intellectual disability Humans Medicine Genetic Testing Carnitine Chinese population Newborn screening business.industry Biochemistry (medical) Infant Newborn General Medicine Metabolism medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Female business Metabolism Inborn Errors medicine.drug |
| Zdroj: | Clinica Chimica Acta. 502:133-138 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/j.cca.2019.12.022 |
| Popis: | Inborn errors of metabolism (IEMs) can cause intellectual disability or even death in children. To evaluate the disease spectrum and genetic characteristics of IEMs in Jining City of Shandong Province in East China, we used tandem mass spectrometry (MS/MS) technology for IEMs screening combined with genetic analysis. Newborns were screened from July 14, 2014, to December 31, 2018. Amino acid and carnitine contents were detected by MS/MS. According to the results for normal newborns, the reference range of our laboratory was established with the percentile method. The suspected positive newborns were further diagnosed using next-generation sequencing. A total of 514,234 newborns were screened, and 265 were diagnosed with IEMs, with a detection rate of 1:1941. Of the 265 patients, 130 (49.06%) had organic acid disorders, 83 (31.32%) had amino acid disorders, 34 (12.83%) had fatty acid oxidation disorders, and 18 (6.79%) had urea circulatory disorders. PAHD and MMA were the two most common disorders. IEMs-associated genes were identified in 233 patients. Our data indicated that IEMs are never uncommon in Jining, and the disease spectrum and genetic background were clearly elucidated, contributing to the treatment and prenatal genetic counseling of these disorders in the region. |
| Databáze: | OpenAIRE |
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