GAUCHER DISEASE: A LYSOSOMAL STORAGE DISORDER WITH MANY TYPES

Abstract

Gaucher disease is a chronic multisystem disease with a genetic background. It is inherited in an autosomal
recessive way and belongs to the lysosomal cumulative diseases. The symptomatology is due to the
decreased activity of the lysosomal enzyme glucocerebrosidase and the accumulation of glucosylceramide
in macrophages. The disease presents three types, with the predominant type being Gaucher Disease type
1 (GD1), which does not show neurological involvement and the types GD2, GD3 that present with various,
usually severe neurological symptoms. There are two main therapeutic approaches for the disease, the
treatment of enzyme replacement and the one that involves the reduction of the therapeutic substrate.