Gaucher Disease

Gaucher disease is a rare disease characterized by the deposition of fatty molecules called cerebrosides, in cells of the reticuloendothelial system and can affect various organs, including the liver, spleen, bones and central nervous system. Gaucher disease is hereditary, irregular dominant character, and affects infants, children and adolescents. This lipid accumulation due to absence of the enzyme called glucocerebrosidase, which acts with cerebrosides decay, thereby preventing precipitation or accumulation of these cells. The lack of this enzyme is caused by mutations in a gene located on chromosome 1. This condition was first described by French physician Philippe Gaucher in 1882.

The main symptoms of Gaucher disease is an enlarged liver and spleen, bone weakness (with severe pain in the bones), nervous system damage, and anemia. Effective treatment involves the application of Gaucher disease, endovenous, of the enzyme glucocerebrosidase, which is obtained from the placenta or recombinant DNA imiglucerasas.

 There are three recognized forms of the disease: type I, II and III. Type I is the most common form, occurs at any age and the symptoms are more docile and attacks the nervous system. The type II only occurs in children and attacks the nervous system. The type III usually begins in childhood and also showed symptoms of Type I and II, and come in an average of one per thousand births cicuenta.