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

News-CRUX-10     7th December 2023        

Context: Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years 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: Trouble eating and not gaining weight, Poor head and neck control, Rolling over and sitting up later than expected, Breathing problems and lung infections, Enlarged and thickening heart or heart defects and Enlarged liver.
  • Treatment: The treatment includes enzyme replacement therapy (ERT).
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