Pompe disease (GSD type II) [DS:H01940] Cori disease, Forbes disease (GSD type III) [DS:H01941] Andersen disease (GSD type IV) [DS:H01942] McArdle disease (GSD type V) [DS:H01943] Tarui disease (GSD type VII) [DS:H01945] Phosphorylase kinase deficiency (GSD type IXd) [DS:H01948] GSD type X [DS:H01951] GSD type XI [DS:H01946] GSD type XII [DS:H01952] GSD type XIII [DS:H01953] GSD type XIV [DS:H01954] GSD type XV [DS:H01955] GSD type 0b [DS:H01949]
Description
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. GSD has been known to mainly be a liver disease with the exception of Pompe (GSD II), McArdle (GSD V), or Tarui (GSD VII) diseases. Recently, however, various muscular disorders involving different types of muscles have been described to be caused by defective glycogen metabolism. In the Muscle GSDs, the consequence of a block in skeletal muscle glycogenolysis, or in the glycolysis, is an impairment of muscular performance, owing to an increase in glycogen storage that disrupts contractile function and/or a reduced substrate turnover, which inhibits skeletal muscle ATP production.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01762 Muscle glycogen storage disease
