How does the deficiency of the enzyme acid alpha-glucosidase lead to Pompe disease?
A
Accumulation of glycogen in the liver and muscles due to lack of acid alpha-glucosidase
✓
B
Breakdown of glycogen in the liver and muscles due to excess acid alpha-glucosidase
C
Inability to synthesize glycogen in the liver and muscles due to acid alpha-glucosidase deficiency
D
Enhanced degradation of glycogen in the liver and muscles due to acid alpha-glucosidase overexpression
Explanation
Pompe disease is a genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase, which breaks down glycogen in the lysosomes. The deficiency leads to the accumulation of glycogen in the liver, muscles, and other tissues, causing cellular damage and clinical symptoms.
Enzymes in Disease
Genetic Disorders
Lysosomal Storage Diseases
Hard
MEDICAL
Confidence: high