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Kaplan Qbank USMLE



Author4 Posts
  #1

You learn of the recent death of an eight-month patient of yours who had a deficiency in the enzyme lysosomal alpha-1,4-glucosidase deficiency. The glycogen storage disease was associated with accumulation of glycogen in the lysosomes of several organs, including the heart, muscle, and liver. Although glucose homeostasis was normal, the patient had experienced severe cardiomyopathy. You diagnosed the patient with Pompe's disease. Which of the following biochemical deficits are seen in this disorder?

A. Lysosomal storage

B. An alpha-1,6-glucosidase deficiency

C. A glucose-6-phosphatase deficiency

D. A glycogen phosphorylase enzyme deficiency

E. A lysosomal glucosidase deficiency

  #2

E

though A also seem correct,since it is similar to I cell disease

  #3

I think E is right also

  #4

E is correct







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