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).

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