Connective tissue dysplasia (CTD) is associated with complex metabolic changes, including the metabolism of amino acids. However, the currently available data are contradictory. Therefore, the aim of the present study was to investigate the levels of amino acids in the urine of children with undifferentiated (uCTD). The present research involved 524 children who were included in the control group and 1266 children with uCTD syndrome who were included in the experimental group. The levels of amino acids in urine were assessed using GC-MS Agilent GC 7820/MSD 5975. The statistical analysis was performed using SPSS program, version 22. The results of the study by means of chromatography-mass spectrometry of the amino acid composition of urine in children with undifferentiated connective tissue dysplasia syndrome living in permafrost conditions of the Republic of Sakha (Yakutia) are presented in this paper. The analysis of amino acids in urine enables to evaluate their qualitative and quantitative composition, to obtain information about the existing imbalance, which may indicate nutritional and metabolic disorders underlying a large number of diseases, including disorders associated with connective tissue.
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