Glycogen storage disease (GSD) refers to a group of rare genetic conditions that affect how the body stores and breaks down glycogen. The most common type is type I, also called von Gierke disease.

Glycogen Storage Diseases (GSDs) are a group of inherited metabolic disorders that result from deficiencies in enzymes responsible for the synthesis or breakdown of glycogen, a stored form of glucose.

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy ...

Glycogen storage disease type 1 (GSD-1) is a group of inherited metabolic disorders characterised by the inability to use intracellular glucose stores. It is associated with a high risk of ...

Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The deficiency of this enzyme, ...

Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II. The younger a child is at diagnosis, the more severe these symptoms can be. For example, babies with ...

Glycogen Storage Disease Type 1 (GSD1) is a rare autosomal recessive condition with an estimated incidence of around 1 in 100,000 births annually. GSD Type 1a describes individuals with defective ...

2 National Centre for Inherited Metabolic Disorders, Dublin, Isle of Man Background Glycogen Storage Disease (GSD) Type IIIa is a recessively inherited disorder caused by a deficiency in the ...

Correspondence to Dr Bin Peng, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; pengbin3{at}hotmail ...