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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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