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Pompe Disease

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.

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