PREVIOUS
✖
Pompe Disease
December 10 , 2023
350 days
493
0
- India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state.
- Pompe disease is a rare inherited disorder that affects one child per million.
- In 2010, Prasanna Shirol, father of a child with Pompe disease, initiated the Organisation for Rare Diseases India (ORDI).
- ORDI is the first NGO in the country dedicated to rare diseases.
- Pompe Disease is also known as Glycogen Storage Disease Type II.
- It is a rare genetic disorder resulting from a deficiency of the enzyme acid alpha-glucosidase (GAA).
- This enzyme plays a crucial role in breaking down glycogen into glucose within cell lysosomes.
- While there is currently no cure for Pompe disease, Enzyme Replacement Therapy (ERT) serves as a standard treatment.
Leave a Reply
Your Comment is awaiting moderation.