POMPE DISEASE (Syllabus: GS Paper 3 – Sci and Tech)

Context:  India's first Pompe disease patient, passed away last month at the age of 24 after battling the disease for years. Nidhi spent the last six years of her life in a semi-comatose state.

Pompe Disease

• About: It (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles.
• 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.

oPompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs.

• Types: Onset - First few month of Life, Late Onset - Any Age
• Symptoms: Muscle weakness: Progressive muscle weakness is a primary feature of Pompe.
• Treatment: Not at the moment, but some treatment options can help improve the patient's quality of life. Enzyme Replacement Therapy, a standard treatment, involves the infusion of the missing enzyme to alleviate glycogen buildup.