Question

Extraordinary Measures (The Movie) 1. In the movie Extraordinary Measures the character John Crowley (played by Brendan Fraser) has two children with Pompe disease. What is the nature of this disease? Why do the children have the disease? What is the life expectancy of individuals with this disease? 2. John Crowley has a third child who does not have the disease. Neither John Crowley, nor his wife Aileen, have the disease. How is it possible that a. John and Aileen, who do not have the disease can have children with Pompe disease? b. the Crowleys have a third child without the disease?

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Answer #1

1) Nature of Pompe disease is autosomal recessive.

It is caused by accumulation of glycogen in lysosome due to deficiency of lysosomal acid alpha glucosidase enzyme.

Life expectancy of this disease is 30 years.

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