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
