India’s first Pompe disease patient, passed away in November 2023 at the age of 24 years in Karnataka after battling the disease.
- She spent the last six years in a semi-comatose state. In 2010, her father started the Organisation for Rare Diseases India (ORDI), the first NGO in the country for rare diseases.
About Pompe disease
- Pompe disease is also known as acid-maltase disease and glycogen storage disease II. It is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles.
- It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen, a stored form of sugar used for energy.
- The enzyme performs its function in intracellular compartments called lysosomes, which function as cellular clearinghouses.
- Lysosomes ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles.
- In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes buildup that damages the muscles of the skeletal muscles and heart most seriously.
- The severity of the disease and the age of onset, which varies widely, are related to the degree of enzyme deficiency.
- Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births.
