What happens to glucosylcerebroside in Gaucher disease?

In Gaucher disease, glucosylcerebroside accumulates in lysosomes due to a defect in the enzyme glucocerebrosidase. This enzyme is responsible for breaking down glucosylcerebroside into glucose and ceramide. When this enzyme is deficient or dysfunctional, the substrate cannot be effectively processed or broken down. As a result, glucosylcerebroside builds up within the lysosomes of macrophages, leading to various symptoms associated with the disease such as splenomegaly, hepatomegaly, and bone pain.

Furthermore, the accumulation of glucosylcerebroside is a hallmark feature of Gaucher's disease, which can disrupt normal cellular function and result in the characteristic clinical manifestations associated with this lysosomal storage disorder. Understanding this fundamental aspect of the disease helps to clarify why maintaining normal levels of glucosylcerebroside is crucial for cellular health and function.