Gaucher disease, as described in the material, is caused by a deficiency of which enzyme?

• A. Beta-glucosidase
• B. Beta-galactosidase
• C. Hexosaminidase-A
• D. Alpha-galactosidase

Answer: (B)

Gaucher disease is caused by a deficiency of the lysosomal enzyme beta-glucosidase (glucocerebrosidase). This enzyme normally breaks down glucocerebroside into glucose and ceramide. When its activity is reduced, glucocerebroside accumulates inside macrophages, producing the characteristic Gaucher cells and leading to spleen and liver enlargement, bone issues, and other symptoms.

The other enzymes listed correspond to different conditions: beta-galactosidase deficiency causes GM1 gangliosidosis, hexosaminidase A deficiency causes Tay-Sachs disease, and alpha-galactosidase deficiency causes Fabry disease.