Question

A genetic mutation that limits the production of glucocerebrosidase, an enzyme responsible for breaking down fats, leads to which of the following diseases?

• A. Klinefelter Syndrome
• B. Phenylketonuria
• C. Gaucher’s disease
• D. Turner Syndrome

Hint:

Glucocerebrosidase deficiency = Gaucher’s disease, a lipid storage disorder.

Answer 1

The Correct Option is C

Gaucher's disease is caused by a mutation in the glucocerebrosidase-encoding gene, leading to glucocerebroside accumulation in cells, primarily macrophages, and manifesting as symptoms such as hepatomegaly and bone pain.