Online ISSN: 3007-0244,
Print ISSN:  2410-4280
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.
1. Cеspedes N. et al. Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia // Colomb. Med. vol.48 no.3 Cali July/Sept. 2017 http://dx.doi.org/10.25100/cm.v48i3.2180 (Дата обращения: 07.02.2022) 2. Chace D.H., Kalas T.A., Naylor E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism // Annu Rev Genomics Hum Genet. 2002. 3:17-45. 3. Chi-Ju Yang et al. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China // BMC Pediatr. 2018.18(1):110. Published 2018 Mar 13. doi:10.1186/s12887-018-1090-2 4. Hamers F.F., Rumeau-Pichon C. Cost-effectiveness analysis of universal newborn screening for medium-chain acyl-CoA dehydrogenase deficiency in France // BMC Pediatr. 2012. 12:60. Published 2012 Jun 8. doi:10.1186/1471-2431- 12-60В. 5. Josef Bártl et Simultaneous Determination of Cystathionine, Total Homocysteine, and Methionine in Dried Blood Spots by Liquid Chromatography/Tandem Mass Spectrometry and Its Utility for the Management of Patients With Homocystinuria // Clin Chim Acta. 2014. 437:211‐217. doi:10.1016/j.cca.2014.07.028. 6. Khneisser I. et al. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon // J Med Screen. 2015. 22(4):182-186. doi:10.1177/0969141315590675 7. Lee H.C., Mak C.M., Lam C.W., Yuen Y.P. et al. Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong // Chin Med J (Engl). 2011 Apr. 124(7):983-9. 8. Lindner M., Abdoh G., Fang-Hoffmann J., Shabeck N. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg // J Inherit Metab Dis. 2007 Aug; 30(4):522-9. 9. Lund A.M., Hougaard D.M., Simonsen H., Andresen B.S., Christensen M., Dunø M., et al. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening // Mol Genet Metab. 2012. Nov. 107(3):281-93 10. Ma S. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China // J Clin Lab Anal. 2020. 34(5):e23159. doi:10.1002/jcla.23159 11. Mak C.M. et al. Inborn errors of metabolism and expanded newborn screening: review and update // Crit Rev Clin Lab Sci. 2013. 50(6):142‐162. doi:10.3109/10408363.2013.847896 12. Moorthie S. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases // J Inherit Metab Dis. 2014. 37(6):889‐898. doi:10.1007/s10545-014-9729-0 13. Nguengang Wakap S., Lambert D.M., Olry A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database // Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0 (Дата обращения: 16.01.2022) 14. Niu D.M., Chien Y.H., Chiang C.C., Ho H.C., Hwu W.L. et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan // J Inherit Metab Dis. 2010 Oct; 33(Suppl 2):S295-305. 15. Ozben T. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry // Clin Chem Lab Med. 2013. 51(1):157-176. doi:10.1515/cclm-2012-0472. 16. Pourfarzam Morteza, Fouzieh Zadhoush “Newborn Screening for inherited metabolic disorders; news and views” // The Official Journal of Isfahan University of Medical Sciences 2013. Vol. 18,9: 801–808. 17. Shujun Ma et al. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China // J Clin Lab Anal. 2020;34(5):e23159. doi:10.1002/jcla.23159 18. Thiboonboon K. et al. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand // PLoS ONE. 2015. 10(8): e0134782. https://doi.org/10.1371/journal.pone.0134782 (Дата обращения: 26.01.2022) 19. Wilcken B., Wiley V., Hammond J., Carpenter K.N. Screening newborns for inborn errors of metabolism by tandem mass spectrometry // Engl J Med. 2003 Jun 5; 348(23):2304-12. 20. Yamaguchi S. Newborn screening in Japan: restructuring for the new era. Ann Acad Med Singap. 2008 Dec; 37(12 Suppl):13-5. 21. Yang C.J. et al. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China // BMC Pediatr. 2018. 18(1):110. Published 2018 Mar 13. doi:10.1186/s12887-018-1090-2. 22. Yoon H.R., Lee K.R., Kim H., Kang S., Ha Y., Lee D.H. et al. Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea // Southeast Asian J Trop Med Public Health. 2003. 34 Suppl 3:115-20. 23. Yunus Z.M., Rahman S.A., Choy Y.S., Keng W.T., Ngu L.H. Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges // J Pediatr Endocrinol Metab. 2016 Sep 1. 29(9):1031-9. DOI: 10.1515/jpem-2016-0028. PMID: 27544719.
Количество просмотров: 389

Ключевые слова:


Библиографическая ссылка

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.2022.24.6.008

Авторизируйтесь для отправки комментариев