Gaucher Disease

Gaucher disease is the most common lysosomal storage disorder, caused by an inherited deficiency of the enzyme glucocerebrosidase, which allows a fatty substance called glucocerebroside to accumulate in macrophages within the spleen, liver and bone marrow. It typically causes an enlarged spleen and liver, anemia, low platelet counts and bone disease; the most common form, type 1, does not affect the brain, while the rarer types 2 and 3 do. French physician Philippe Gaucher first described the disease in 1882, and it was later among the first genetic diseases successfully treated with enzyme replacement therapy.