| Author | 4 Posts |
nadiabarati
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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
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| bangledoc
Forum Senior
Topics: 8
Posts: 125
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C
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| robin082006
Forum Hero
Topics: 471
Posts: 5,125
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E
A. Lysosomal storage : Fabry, Gaucher, Tay Sachs, Nieman, Metachomatic Leucodystrophy, Hunter, Hurler, Krabbe
B. An alpha-1,6-glucosidase deficiency: Cori disease
C. A glucose-6-phosphatase deficiency : Von Gierke disease
D. A glycogen phosphorylase enzyme deficiency : McArdle's disease
E. A lysosomal glucosidase deficiency : Yes, this is Pompe
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| nadiabarati
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yes agree with robin E
alpha 1,4 glucosidase deficiency or type II glycogen storage disease.
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