Context: India's first patient diagnosed with Pompe disease, a rare genetic disorder, has passed away.
About Pompe disease:
- It is a rare and progressive genetic disorder in which a complex sugar called glycogen builds up in the lysosomes (a cellular structures that act as recycling center).
- It is an autosomal recessive disorder, means when individuals with Pompe disease inherit two defective copies of the gene, one from each parent.
- The disease occurs when individual, lack a specific digestive enzyme called acid alpha-glucosidase (GAA). The deficiency of GAA leads to the accumulation of glycogen in various tissues, particularly in muscles.
- It is also known as glycogen storage disease type II (GSD II).
Symptoms of Pompe disease
- Muscle weakness, difficulty breathing, respiratory insufficiency, enlarged heart (cardiomegaly), and problems with motor skills.
Diagnosis of Pompe disease
- By genetic and enzyme test.
Cure of Pompe disease
- There is no cure for the disease.
Treatment of Pompe disease
- Involves enzyme replacement therapy (ERT), to replace the deficient GAA enzyme. The most commonly used enzyme in replacement therapy is alglucosidase alfa.
Cases in India:
- Although no cumulative government data is available, there are about 50 individuals in India who currently suffer from Pompe disease.