What Happens When Acid Alpha Glucosidase is Deficient?
A deficiency in acid alpha glucosidase leads to a condition known as Pompe disease or glycogen storage disease type II. This genetic disorder is characterized by the buildup of glycogen in lysosomes, primarily affecting muscle and heart tissues. Histologically, affected tissues show enlarged lysosomes filled with glycogen, leading to cellular dysfunction and clinical symptoms such as muscle weakness, respiratory distress, and cardiac problems.
