CHROMOSOMAL AND AUTOSOMA GENE DISEASES: GENETIC BASIS, CLINICAL FEATURES AND TREATMENT STRATEGIES

This article discusses the genetic, biochemical and clinical aspects of chromosomal diseases and metabolic syndromes associated with autosomal gene mutations. The pathogenesis of hereditary metabolic diseases accompanied by disorders of amino acid, carbohydrate and lipid metabolism, the role of chromosomal abnormalities and gene mutations in their development are analyzed. Also, modern treatment approaches such as biochemical diagnostics, genetic screening, prenatal examinations, diet therapy, enzyme replacement therapy and gene therapy are considered on a scientific basis. The study substantiated the relevance of medical-genetic approaches in the early detection of hereditary metabolic diseases and the definition of preventive measures.