Pompe Disease - Glycogen Storage Diseases

Explore the intricacies of Pompe Disease, also known as Glycogen Storage Disease type 2 (GSD II), in this comprehensive 22-minute video from Medicosis Perfectionalis. Delve into the biochemistry behind this genetic disorder, caused by a defect in the GAA gene on chromosome 17's long arm. Learn about the deficiency of lysosomal acid alpha-glucosidase and its impact on glycogen metabolism. Understand the clinical manifestations, including heart diseases, cardiomyopathy, and arrhythmias. Discover how accumulated glycogen in the liver stains positive with PAS stain. Examine the progression of the disease, potentially leading to aneurysms, diaphragmatic paralysis, respiratory failure, and death. Benefit from a mnemonic device to aid in remembering key aspects of Pompe Disease, enhancing your understanding of this complex glycogen storage disorder.

Pompe Disease (with a mnemonic) | Glycogen Storage Diseases