You are examining a 5-month-old infant who was brought to your office by distressed parents. Their infant has demonstrated progressive weakness and difficulty eating and appears to have a bulging abdomen. Upon examination, you find striking hypotonia and demonstrable palpable liver. Chest x-ray indicates prominent cardiomegaly. Before a correct diagnosis could be made, the infant lapses into a coma and dies. At autopsy, the heartwas sectioned and stained with the result shown. Which of the following diseases is most likely given the symptoms and outcomes?
A) Andersen disease
B) Cori (Forbes) disease
C) McArdle disease
D) Pompe disease
E) von Gierke disease
Correct Answer:
Verified
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