ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2024
[Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 0 citations in OpenAlex.
- A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.International journal of neonatal screening · 2026Review
- Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.International journal of neonatal screening · 2025Review
- [Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
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Authors and funding
11 authors at 1 institution in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
objectivesTo investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.
methodsA retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.
resultsA total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.
conclusionsThis study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.
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