What causes Gaucher's Disease?

Gaucher's Disease is caused by a deficiency in beta-glucocerebrosidase, an enzyme responsible for the breakdown of glucocerebroside, a type of lipid. When this enzyme is deficient or absent, glucocerebroside accumulates within the lysosomes of macrophages, leading to the characteristic symptoms of the disease, which include hepatosplenomegaly, bone pain, and various hematological issues.

The accumulation of glucocerebroside primarily affects the liver, spleen, and bone marrow, altering normal function and causing the associated complications. This specific biochemical pathway highlights the critical role of beta-glucocerebrosidase in lipid metabolism and its importance in cellular health.

The other listed options involve enzymes related to different metabolic pathways. Acid sphingomyelinase is associated with Niemann-Pick disease, lipoprotein lipase is involved in lipid metabolism in the context of triglyceride breakdown, and lecithin-cholesterol acyltransferase plays a role in cholesterol metabolism and transport. These conditions and enzymes do not directly relate to the pathology of Gaucher's Disease, which is distinctively linked to beta-glucocerebrosidase deficiency.