Why is it in the news?

• About 50 individuals in India are affected by Pompe disease.

 More about the news

• Pompe disease is a rare genetic disorder caused by mutations in the Acid alpha-glucosidase (GAA) gene.
• GAA enzyme breaks down glycogen, a stored form of sugar, into glucose in lysosomes for energy. Mutations in the GAA gene reduce or eliminate the essential enzyme, leading to glycogen accumulation in cells, especially muscles.
• Currently, there is no cure, but symptom management is possible.
• Enzyme replacement therapy can help improve muscle tone and reduce glycogen storage.