What is the role of alpha-glucosidase in the pathogenesis of Pompe disease?
A
It breaks down glycogen to glucose
B
It accumulates in lysosomes and causes cellular damage
✓
C
It inhibits the activity of other enzymes involved in glycogen metabolism
D
It stimulates the production of glycogen synthase
Explanation
Pompe disease is caused by a deficiency of acid alpha-glucosidase, leading to the accumulation of glycogen in lysosomes and resulting in cellular damage.
Source
NCBI Genetics Home Reference
Enzymes in Disease
Biochemistry
Lysosomal Storage Diseases
Medium
MEDICAL
Confidence: high