Pompe Disease (Type II)
Pompe Disease, also called glycogen storage disease type II (GSD-II), is an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body. Pompe Disease is caused by a mutation in lysosomal acid alpha-1,4-glucosidase (lysosomal acid maltase), which leads to the accumulation of glycogen in lysosomes.
The glycogen accumulation leads to myopathy and progressive muscle weakness, notably limb-girdle muscle weakness. The myopathy may also cause respiratory distress, and Pompe disease often presents as exercise intolerance. Additionally, cardiomegaly and hypertrophic cardiomyopathy (HCM) is perhaps the most common presenting feature of Pompe disease. The diagnosis may be supported by the visualization of excess glycogen in lysosomes using the PAS stain.
Find Pompe Disease and more Glycogen Storage Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.