A PILOT STUDY OF NEWBORN SCREENING OF INHERITED METABOLIC DISORDERS USING TANDEM MASS SPECTROMETRY IN KAZAKHSTAN

Abstract

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.