What is the role of enzyme acid alpha-glucosidase in the human body, and what disease is caused by its deficiency?

A It breaks down glucose and its deficiency causes diabetes
B It breaks down glycogen and its deficiency causes Pompe disease ✓
C It breaks down proteins and its deficiency causes muscular dystrophy
D It breaks down fats and its deficiency causes atherosclerosis

Explanation

Acid alpha-glucosidase is an enzyme that breaks down glycogen, and its deficiency causes Pompe disease, a genetic disorder characterized by the accumulation of glycogen in muscles.

Mnemonic

Pompe = Pump → enzyme pumps glycogen out of cells

Source

NCERT Class 12 Biochemistry
Enzymes in Disease Biochemistry Lysosomal Storage Diseases Medium MEDICAL Confidence: high