Question

A mutation in the GLA (alpha-galactosidase A) gene leads to which of the following conditions?

• A. Fabry disease
• B. Gaucher disease
• C. Phenylketonuria
• D. Cri-du-chat syndrome

Hint:

Fabry disease = GLA mutation, causing enzyme deficiency and lipid buildup.

Answer 1

The Correct Option is A

Fabry disease is caused by mutations in the GLA gene, which codes for the alpha-galactosidase A enzyme. This leads to the accumulation of globotriaosylceramide in various organs, causing symptoms such as pain, kidney failure, and cardiac issues.