Clinik-epidemiological characteristic of the population with Gaucher disease in the Chelyabinsk area

Gaucher disease (GD) is an autosomal recessive condition caused by mutations in the P-D-glucoeerebrosidase structural gene; this enzyme is present in the lysosomes of all tissue types. Modification of the enzyme structure as a result of gene mutations leads to disorders in the glucocerebroside cleavage, and it is accumulated in the cells of all tissues. Three types of BG are distinguished: non-neuronopathic; acute neuronopathic; and chronic neuronopathic. All methodological approaches used in hereditary metabolic diseases were realized in the studies, diagnosis, and treatment of GD. These approaches include analysis of pathological metabolites, defective enzyme, mutant gene, and enzyme substitution, substrate suppressive, and gene therapy methods.