Gaucher disease is the result of a deficiency of a lysosomal enzyme, glucocerebrosidase, which causes the accumulation of its substrate, glucosylceramide, in macrophages. Bone involvement, (hepato)splenomegaly, bleeding diathesis, thrombocytopenia, increased ferritin levels, and immunoglobulin abnormalities, such as monoclonal gammopathy or hypergammaglobulinemia, are all clinical or biological signs that should prompt a diagnosis of Gaucher disease. Type 1, the most common form, is responsible for visceral damage, while Types 2 and 3 are responsible for neurological disorders. The diagnosis, which is facilitated by using algorithms, is based on the confirmation of the enzyme deficiency and search for the causal mutation. Treatment involves the intravenous administration of the deficient enzyme, such as miglucerase, velaglucerase, or taliglucerase) or the use of oral molecules that inhibit the biosynthesis of glycosylceramide like miglustat or eliglustat.