Which disease is characterized by lysosomal accumulation of glucocerebrosides?

Gaucher's disease is characterized by the lysosomal accumulation of glucocerebrosides, due to a deficiency in the enzyme glucocerebrosidase. This enzymatic deficiency leads to the buildup of glucocerebrosides in macrophages, which transforms them into "Gaucher cells," large cells that can cause various clinical symptoms. Patients with Gaucher's disease may present with splenomegaly, hepatomegaly, bone pain, and an increased risk of hematological issues such as anemia and thrombocytopenia.

The underlying mechanism involves the inability to break down glucocerebrosides, which normally occur as a component of cell membranes and lipids. The accumulation of these lipids has significant effects on multiple organ systems due to the storage of the undegraded substrate in lysosomes, ultimately leading to the characteristic symptoms associated with the disease.

This understanding highlights the specific metabolic pathway that is disrupted in Gaucher's disease, distinguishing it from other lysosomal storage disorders, which have different substrates and associated clinical features. For example, Krabbe's disease involves the accumulation of galactocerebrosides, metachromatic leukodystrophy is characterized by sulfatides, and Niemann-Pick disease is