What enzyme deficiency characterizes Gaucher disease?

Gaucher disease is characterized by a deficiency in the enzyme acid β-glucosidase. This enzyme is essential for the breakdown of glucocerebrosides, a type of lipid that accumulates in various tissues, particularly the spleen, liver, lungs, and bone marrow, when the enzyme is deficient. Individuals with Gaucher disease typically present with symptoms such as splenomegaly, hepatomegaly, bone pain, and an increased risk of fractures.

The accumulation of glucocerebrosides leads to the characteristic Gaucher cells, which are lipid-laden macrophages seen in tissue biopsies. The enzymatic defect is a key factor in the pathophysiology of the disease, making the identification of acid β-glucosidase deficiency crucial for diagnosis and understanding treatment options. Enzyme replacement therapy targeting this deficiency has proven effective in managing the symptoms of the disease.

Understanding this deficiency provides important insights into both the nature of Gaucher disease and the mechanisms behind lysosomal storage disorders as a whole.