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?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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