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About The Pompe Disease

Context:

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

Relevance:

GS II: Health

Pompe Disease

  • A scarce genetic disorder, Pompe disease affects roughly one in a million children.

Genetic Causes

  • Caused by mutations in the GAA gene.
  • The GAA gene is crucial for producing the enzyme acid alpha-glucosidase.

Enzymatic Function and Malfunction

  • Acid alpha-glucosidase is key in lysosomes for breaking down glycogen into glucose.
  • GAA gene mutations hinder this process, causing glycogen accumulation.

Consequences of Enzyme Deficiency

  • Excessive glycogen in lysosomes leads to organ and muscle damage.
  • Symptoms manifest as muscle weakness, respiratory difficulties, cardiac issues, and swallowing problems.

Patterns of Onset

  • Infantile-onset: Symptoms emerge within months of birth.
  • Late-onset: Symptoms develop later in life, during childhood or adulthood.

Impact on Population

  • Pompe disease occurs equally in males and females.

Available Treatments

  • Enzyme replacement therapy (ERT) is the primary treatment.

-Source: The Hindu


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