Diseases and Disorders, Diseases of Carbohydrate Metabolism, Glycogen Storage Diseases
Last Updated: February 7, 2025 Introduction to Pompe Disease Glycogen storage disease type 2 (GSD2) is an autosomal recessive disorder that is more commonly known as Pompe disease or acid maltase deficiency (AMD). This disease was originally referred to as Pompe...
Diseases and Disorders, Diseases of Carbohydrate Metabolism, Glycogen Storage Diseases
Last Updated: September 9, 2024 Enzymes of Type 1 Glycogen Storage Disease The mechanism by which free glucose is released from glucose-6-phosphate involves several different steps. Glucose-6-phosphate must first be transported into the lumen of the endoplasmic...
Diseases and Disorders, Diseases of Carbohydrate Metabolism
Last Updated April 11, 2024 Introduction to Lafora Disease Lafora disease is a fatal autosomal recessive disease that is the result of a defect in glycogen metabolism. The disease gets its name from the Spanish neuropathologist, Gonzalo Rodriguez Lafora, who initially...