Question:
Glycogen storage disease which presents as a lysosomal storage disease is:
Glycogen storage disease which presents as a lysosomal storage disease is:
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Look for the glycogenosis caused by a lysosomal acid maltase defect.
Updated On: Jun 24, 2026
- Von Gierke's disease
- Pompe's disease
- McArdle's disease
- Andersen's disease
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The Correct Option is B
Solution and Explanation
Step 1: Pompe's disease is type II glycogen storage disease. It is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase, also called acid maltase.
Step 2: Because the defective enzyme is normally located inside lysosomes, glycogen accumulates within the lysosomes themselves. This makes Pompe's disease the only glycogen storage disorder that is also classified as a lysosomal storage disease. Clinically it causes severe cardiomegaly and hypotonia in infants.
Step 3: Why the others are wrong. Von Gierke's disease (type I) is due to glucose-6-phosphatase deficiency, McArdle's disease (type V) is due to muscle phosphorylase deficiency, and Andersen's disease (type IV) is due to branching enzyme deficiency. These are cytosolic enzyme defects, not lysosomal.
Hence the correct answer is Pompe's disease.
Step 2: Because the defective enzyme is normally located inside lysosomes, glycogen accumulates within the lysosomes themselves. This makes Pompe's disease the only glycogen storage disorder that is also classified as a lysosomal storage disease. Clinically it causes severe cardiomegaly and hypotonia in infants.
Step 3: Why the others are wrong. Von Gierke's disease (type I) is due to glucose-6-phosphatase deficiency, McArdle's disease (type V) is due to muscle phosphorylase deficiency, and Andersen's disease (type IV) is due to branching enzyme deficiency. These are cytosolic enzyme defects, not lysosomal.
Hence the correct answer is Pompe's disease.
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