A PILOT STUDY OF NEWBORN SCREENING OF INHERITED METABOLIC DISORDERS USING TANDEM MASS SPECTROMETRY IN KAZAKHSTAN
Background: Inherited metabolic disorders (IMD) occupy a significant place in human hereditary pathology, occur in all populations, and have severe clinical manifestations. It is known that IMDs are one of the significant causes of childhood morbidity and mortality throughout the world, the indicators of which directly depend on the possibilities of diagnosing and introducing neonatal screening for IMDs in each country. For the first time, the Republic of Kazakhstan expanded neonatal screening by including neonatal selective screening of newborns for 49 IMDs using tandem mass spectrometry (TMS).
The aim of this study was a primary analysis of the frequency of IMD in selective and mass screening, and clarification of the reference standards of the analyzed metabolites in the Kazakhstani population.
Methods: Dry blood drops collected from newborns aged from 0 days to 6 months served as the material for the study (n=1000). The research method was tandem mass spectrometry.
Result: The results of neonatal selective screening for IMD in the Republic of Kazakhstan showed that their preliminary frequency is 16.0 per 1000 newborns, the main share of IMD falls on defects in β-oxidation of fatty acids and lysosomal storage diseases (25.0%), followed by organic aciduria and peroxisomal diseases (18.7%), disorders of the urea cycle and aminoacidopathy - (6.3%).
Conclusion: Early screening and diagnosis with TMS can help reduce mortality and morbidity among children with IMD. Timely treatment, will improve the health of newborns and reduce the incidence of birth defects, as well as reduce the economic burden on patients, families, and society.
Korlan Z. Saduakassova¹, https://orcid.org/0000-0002-4758-6948
Gulnara S. Svyatova², https://orcid.org/0000-0001-5092-3143
Vladislav V. Sklyarov³,
Gulzhan T. Kassenova¹, https://orcid.org/0000-0003-0815-279X
¹ Al-Farabi Kazakh National University, Higher School of Medicine, Faculty of Medicine and Health care, Almaty, the Republic of Kazakhstan.
² Scientific Center of Obstetrics, Gynecology and Perinatology, Republic Medical Genetic Consultation, Almaty, the Republic of Kazakhstan.
³ Center of Molecular Medicine, Almaty, the Republic of Kazakhstan.
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Saduakassova K.Z., Svyatova G.S., Sklyarov V.V., Kassenova G.T. A pilot study of newborn screening of inherited metabolic disorders using tandem mass spectrometry in Kazakhstan // Nauka i Zdravookhranenie [Science & Healthcare]. 2022, (Vol.24) 6, pp. 59-64. doi 10.34689/SH.2022.24.6.008Похожие публикации:
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