Selective Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Newborns of the West Kazakhstan: Pilot Study

Abstract

Tandem mass spectrometry can detect and quantify many metabolites in a single blood spot to diagnose amino acid disorders, organic acids, fatty acid oxidation, and urea cycle disorders. The use of tandem mass spectrometry (MS/MS) is expanding for the implementation of newborn screening programs for inborn errors of metabolism and for selective screening of children of different ages. In Kazakhstan, the use of MS/MS in metabolic screening programs is not yet developed due to the high cost of equipment and consumables and the lack of special screening centers and specialists. Data on the prevalence of most inborn errors of metabolism in Kazakhstan are not presented in the literature. Aim: to perform selective screening for hereditary metabolic diseases among newborns in western Kazakhstan using the liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. Methods: Selective screening was performed among 250 newborns with suspected hereditary metabolic disorders using tandem mass spectrometry. Results: The results of selective newborn screening were interpreted by comparison with reference values established for this group. Diagnosis was based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, urine organic acids, and gene mutation tests. An assessment of 37 inborn errors of metabolism frequencies in high-risk newborns was performed. Conclusion: The research will further develop the national as selective as expanded newborn screening programs.