GENETIC DETERMINACY OF DISORDERS OF UREA SYNTHESIS PROCESSES

Tsekhomsky Alexander Vyacheslavovich, Malay Dmitry Alexandrovich, Beloshapkina Victoria Igorevna, Mugadieva Anastasia Vakhovna

More than 80% of the nitrogen utilized by the human body is excreted into the external environment in the form of urea, the formation of which occurs mainly in hepatocytes. Disorders in the synthesis of enzymes that have a genetically determined origin lead to the emergence of acute and chronic conditions. The clinical picture can develop both in the neonatal period (more often within 1-2 days after birth) and in infancy. In newborns with disorders of the ornithine cycle (OC), brain edema can develop rapidly, and, as a result, confusion, developmental delay, failures in thermoregulation. Most of the patients with OCR disorders do not live to the second year of life. The article deals with the pathogenesis and epidemiology of diseases, the location and structure of genes associated with abnormalities in the urea cycle, methods of early diagnosis of pathologies of OCS. The purpose of this work was to search for the dependencies of the severity and frequency of diseases associated with the anomalies of the OCS, relative to mutations in the corresponding genes. Conclusions have been drawn about the frequency of mutations regarding the functional features of the encoded enzymes, which will serve as the basis for subsequent studies to identify non-obvious correlations between genetically determined disorders of the OC and concomitant diseases.

Keywords:mitochondria, mutations, ornithine cycle, hyperammonemia