Question:
A mutation in the GLA (alpha-galactosidase A) gene leads to which of the following conditions?
A mutation in the GLA (alpha-galactosidase A) gene leads to which of the following conditions?
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Fabry disease = GLA mutation, causing enzyme deficiency and lipid buildup.
Updated On: Mar 12, 2025
- Fabry disease
- Gaucher disease
- Phenylketonuria
- Cri-du-chat syndrome
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The Correct Option is A
Solution and Explanation
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.
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