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Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.

The role of glutathione S-transferase for the life of the cell and the entire organism is related to their participation in the processes of detoxification of xenobiotics and antioxidant protection. Genetic variability of glutathione S-transferases appears in the form of different enzymatic activity of the corresponding protein products. In this study, a comparative analysis was conducted on the frequency of genotypes of three genes in the glutathione S-transferases gene superfamily (GSTM1, GSTT1, GSTP1) from representatives of two ethnic groups, Russian and Buryat. To this end, genetic typing of DNA samples was performed by polymerase chain reaction. Statistically significant differences in the frequency of occurrence of alleles A, B, C of the GSTP1 gene (р = 0.026) were found between the groups of teenagers compared. It was found that the frequency of the allele A, which codes for the active variant enzyme, is significantly higher in the Buryat ethnic group (p = 0.012). The allele B, the product of which is a “slow” version of the enzyme, was significantly more common in the Russian ethnic group (p = 0.014). In the GSTM1 and GSTT1 genes, no statistically significant differences in the frequency of occurrence of “zero” and “functional” genotypes between the compared groups of teenagers were found. However, there was a tendency to increase in the frequency of the “zero” genotype of the GSTM1 gene in the Russian ethnic group. In addition, the frequency of the “zero” genotype in two genes GSTM1 and GSTT1 at once was almost two times higher in the Russian ethnic group than in the Buryat ethnic group.