📢 Too many exams? Don’t know which one suits you best? Book Your Free Expert 👉 call Now!
  • google app store apple app store
    • ✖

      Question

      Consider the following statements about Pompe

      disease: 1. Recently, India’s first patient of Pompe disease was cured. 2. It is a rare inherited disorder that affects one child per million. 3. The symptoms of this disease begin in the first few months after birth. Which of the statements given above is/are correct?
      A 1 only Correct Answer Incorrect Answer
      B 2 only Correct Answer Incorrect Answer
      C 3 only Correct Answer Incorrect Answer
      D 2 and 3 both Correct Answer Incorrect Answer

      Solution

      Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state. It is a rare inherited disorder that affects one child per million. Mutations in the GAA gene cause Pompe disease Infantile-onset: symptoms begin in the first few months after birth. The treatment includes enzyme replacement therapy (ERT).

      Practice Next
      More Beepedia Questions

      Relevant for Exams:

      ask-question