Glycogen Storage Disorders

What is Glycogen Storage disease?

Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly formed or released in the body. They are characterized by the accumulation of abnormal amounts or types of glycogen in tissues.

Glucose is a simple sugar, which is a form of carbohydrate. It is found in many foods and is the main source of energy for our bodies. Glycogen is the storage form of glucose in our bodies. Glycogen storage diseases are due to either a deficiency or blockage of an enzyme that is important in converting glucose to glycogen so it can be stored in the body for later use. The main places glycogen is stored in the body includes the liver and muscle cells. 

The main types of GSDs are categorized by number and name. They include:

  • Type I - Von Gierke disease, defect in glucose-6-phosphatase, this is the most common type of GSD, and accounts for 90% of all GSD cases

  • Type IV - Andersen's disease/brancher enzyme deficiency

  • Type V - McArdle's disease/muscle glycogen phosphorylase deficiency

  • Type VI - Hers' disease/liver phosphorylase deficiency

  • Type IX - liver glycogen phosphorylase kinase deficiency

Sourced from: http://www.mda.org.au/Disorders/Metabolic/GSDIII.asp on 22/06/2015

This page was reviewed 30 Mar 2016