Pompe Disease

Facts for Prelims

Pompe Disease

News: Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state.

About:
• Pompe disease is a rare genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells. The disease occurs when you lack a specific digestive enzyme called acid alpha-glucosidase (GAA).
• This condition causes severe muscle weakness and wasting. Without early detection and treatment, the disease can be fatal.

There are two main types of Pompe disease:
• Infantile-onset: Symptoms start within the first year of life, most often around 4 months of age. Symptoms include severe muscle weakness, an enlarged liver, and an enlarged heart due to cardiomyopathy. Without treatment, babies usually die of heart or respiratory failure between 1 and 2 years of age.
• Late-onset (juvenile or adult-onset): Symptoms of lateonset Pompe disease can appear at any age. This type is usually milder, and progression happens at a slower pace.
• While there is currently no cure for Pompe disease, there are treatments available that can help manage the symptoms and potentially slow the progression of the disease.
• One of the main treatments is enzyme replacement therapy (ERT)