KEGG   DISEASE: Muscle glycogen storage disease
Entry
H01762                      Disease                                

Name
Muscle glycogen storage disease
  Subgroup
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 disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01762  Muscle glycogen storage disease
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
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
hsa04922  Glucagon signaling pathway
hsa04142  Lysosome
Gene
(GSD II) GAA [HSA:2548] [KO:K12316]
(GSD III) AGL [HSA:178] [KO:K01196]
(GSD IV) GBE1 [HSA:2632] [KO:K00700]
(GSD V) PYGM [HSA:5837] [KO:K00688]
(GSD VII) PFKM [HSA:5213] [KO:K00850]
(GSD IXd) PHKA1 [HSA:5255] [KO:K07190]
(GSD X) PGAM2 [HSA:5224] [KO:K01834]
(GSD XI) LDHA [HSA:3939] [KO:K00016]
(GSD XII) ALDOA [HSA:226] [KO:K01623]
(GSD XIII) ENO3 [HSA:2027] [KO:K01689]
(GSD XIV) PGM1 [HSA:5236] [KO:K01835]
(GSD XV) GYG1 [HSA:2992] [KO:K00750]
(GSB 0) GYS1 [HSA:2997] [KO:K00693]
Comment
See also H00069 Glycogen storage diseases (GSD).
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006008
OMIM: 232300 232400 232500 232600 232800 300559 261670 612933 611881 612932 614921 613507 611556
Reference
  Authors
Ozen H
  Title
Glycogen storage diseases: new perspectives.
  Journal
World J Gastroenterol 13:2541-53 (2007)
DOI:10.3748/wjg.v13.i18.2541
Reference
  Authors
Shin YS
  Title
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
  Journal
Semin Pediatr Neurol 13:115-20 (2006)
DOI:10.1016/j.spen.2006.06.007
Reference
  Authors
Preisler N, Haller RG, Vissing J
  Title
Exercise in muscle glycogen storage diseases.
  Journal
J Inherit Metab Dis 38:551-63 (2015)
DOI:10.1007/s10545-014-9771-y
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