A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
* Fatigue * Easy bruising * Enlarged abdomen * Enlarged liver and spleen * Portal hypertension
Gaucher’s disease results from an autosomal recessive inheritance, which causes decreased activity of the enzyme glucocerebrosidase. Glucocerebrosidase deficiency leads to an accumulation of glucosylceramide in the storage compartments (lysosomes) of certain body cells. Glucosylceramide buildup occurs in the liver, spleen, bones, and bone marrow, eventually leading to decreased production of red blood cells (anemia) and thinning of the bones (osteopenia).