Accumulation of glucocerebroside in some cells and organs is known as Gaucher's disease. It is a genetic disorder which results from the lack of an enzyme called glucocerebrosidase. Glucocerebroside can accumulate in the spleen, brain, liver, lungs, kidneys and bone marrow. The symptoms depend on the type of gaucher's disease (there are 3 main types ). Fatigue, enlarged spleen, seizures, enlarged liver, brain damage, etc. are the main symptoms of this illness. Enzyme replacement therapy, surgery to remove swollen spleen, medications, blood transfusion for anemia are the various treatments for improving this condition.
HOW IS GAUCHER DISEASE DIAGNOSED?
It is named after Philippe Gaucher, a French physician.