The Glycogen Storage Diseases category contains the posts/pages discussing the major diseases that result from defects in the enzymes of glycogen homeostasis.
Last Updated: May 2, 2024 Introduction to McArdle Disease Glycogen storage disease type 5 (GSD5) is an autosomal recessive disorder more commonly known as McArdle disease. This disease was originally described by Brian McArdle in 1951, hence the association of his...
Last Updated: May 2, 2024 Introduction to Andersen Disease Glycogen storage disease type 4 (GSD4) is more commonly known as Andersen disease or also as amylopectinosis. Andersen disease is inherited as an autosomal recessive disorder. This disease was originally...
Last Updated: September 15, 2022 Introduction to Cori Disease Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori...
Last Updated: October 8, 2024 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...
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...