Year: 2020
Type: article
Abstract: Gaucher disease (GD), code E75.2, is the most common form of hereditary enzymopathies united in the group of lysosomal diseases with autosomal recessive type of inheritance. The occurrence of GD is caused by a mutation of the gene responsible for the synthesis of the enzyme в-glucocerebrosidase (acid в-glucosidase), which is involved in the hydrolytic cleavage of glucosylceramide (a component of cell membranes) into glucose and ceramide. Insufficient activity (or insufficient amount) of в-glucocerebrosidase leads to the accumulation of glucosylceramide inside the cells of the reticuloendothelial system, which are thus converted into Gaucher cells. Clinically, this is expressed by a polysystemic disease with progressive hepatosplenomegaly, hematological disorders and lesions of the bones of the skeleton, which leads to severe pain syndrome, increased bone fragility and as a consequence — to severe disability. The “gold standard” of GD treatment is currently enzyme replacement therapy. To increase the availability of drug therapy and optimize approaches to the treatment of children with GD the search and development of new drugs is carried out.
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3001586331