Which enzyme deficiency is associated with Tay-Sachs disease?

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

Answer: (C)

Tay-Sachs disease is a lysosomal storage disorder where a specific lipid, GM2 ganglioside, cannot be broken down in nerve cells. This happens because Hexosaminidase A, the enzyme that normally clears GM2, is deficient. Without Hexosaminidase A, GM2 accumulates in neurons, leading to the progressive neurodegeneration seen in Tay-Sachs.

Among the listed enzymes, Hexosaminidase A is the one linked to this condition. The others are associated with different storage diseases: beta-glucosidase deficiency causes Gaucher disease; beta-galactosidase deficiency causes GM1 gangliosidosis; alpha-galactosidase deficiency causes Fabry disease.