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Optimization of the galactosemia screening algorithm
https://doi.org/10.25557/2073-7998.2025.04.
Abstract
Statistical analysis of complete galactose level was carried out in blood samples of full-term newborns. Samples were obtained on the 4th day of life from children born in 2022 and on the first or second day of life from children born in 2023. The analysis showed (indicated) 17-fold decrease in high-risk group at the first step of galactosemia screening in 2023 compared to 2022. To increase the effciciency of newborn galactosemia screening an algorithm of optimization with second-level test was suggested. Determination of activity of galactose-1-phosphate uridyltransferase (GALT) enzyme allows to detect galactosemia type I regardless from reaching a critical level of galactose.
About the Authors
A. V. Ershova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Russian Federation
Russian Federation
5-A, Tobolskaya str., St.Petersburg, 194044
A. Y. Lobenskaya
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Russian Federation
Russian Federation
5-A, Tobolskaya str., St.Petersburg, 194044
References
1. Badiu Tișa I, Achim AC, Cozma-Petruț A. The Importance of Neonatal Screening for Galactosemia. Nutrients. 2022;15(1):10. doi: 10.3390/nu15010010.
2. Chen H. A., Hsu R. H., Chen L. C., et al. H. Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights. Molecular genetics and metabolism reports. 2024; 38: 101048. https://doi.org/10.1016/j.ymgmr.2024.101048
3. Clinical guidelines. Disorders of galactose metabolism (galactosemia). https://cr.minzdrav.gov.ru/view-cr/375_3 (In Russ.)
Review
For citations:
Ershova A.V., Lobenskaya A.Y. Optimization of the galactosemia screening algorithm. Medical Genetics. 2025;24(4):62-64. (In Russ.) https://doi.org/10.25557/2073-7998.2025.04.
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