KEGG   DISEASE: Glycogen storage diseaseHelp
Entry
H00069                      Disease                                

Name
Glycogen storage disease
  Subgroup
von Gierke disease (GSD type Ia) [DS:H01939]
Pompe disease (GSD type II) [DS:H01940]
Cori disease, Forbe disease (GSD type III) [DS:H01941]
Andersen disease (GSD type IV) [DS:H01942]
McArdle disease (GSD type V) [DS:H01943]
Hers disease (GSD type VI) [DS:H01944]
Tarui disease (GSD type VII) [DS:H01945]
Phosphorylase kinase deficiency (GSD type IX) [DS:H01948]
Glycogen storage disease type X [DS:H01951]
Glycogen storage disease type XI [DS:H01946]
Glycogen storage disease type XII [DS:H01952]
Glycogen storage disease type XIII [DS:H01953]
Glycogen storage disease type XIV [DS:H01954]
Glycogen storage disease type XV [DS:H01955]
Glycogen storage disease type 0a [DS:H01950]
Glycogen storage disease type 0b [DS:H01949]
Fanconi-Bickel syndrome [DS:H01947]
Description
Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H00069  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
     H00069  Glycogen storage disease
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00714  GBE1 deficiency in glycogen biosynthesis
N00715  GYS1 deficiency in glycogen biosynthesis
N00716  GYS2 deficiency in glycogen biosynthesis
N00717  GYG1 deficiency in glycogen biosynthesis
N00719  G6PC deficiency in glycogen degradation
N00721  AGL deficiency in glycogen degradation
N00722  PYGM deficiency in glycogen degradation
N00723  PYGL deficiency in glycogen degradation
N00733  LDHA deficiency in glycolysis
N00735  ENO3 deficiency in glycolysis
N00737  PGAM2 deficiency in glycolysis
N00739  ALDOA deficiency in glycolysis
N00740  PFKM deficiency in glycolysis
N00747  GAA deficiency in glycogen degradation
Gene
(GSD Ia) G6PC; glucose-6-phosphatase [HSA:2538] [KO:K01084]
(GSD Ib/Ic) SLC37A4; glucose-6P transporter [HSA:2542] [KO:K08171]
(GSD II) GAA; alpha-glucosidase [HSA:2548] [KO:K12316]
(GSD III) AGL; amylo-1,6-glucosidase [HSA:178] [KO:K01196]
(GSD IV) GBE1; 1,4-alpha-glucan branching enzyme [HSA:2632] [KO:K00700]
(GSD V) PYGM; glycogen phosphorylase, muscle [HSA:5837] [KO:K00688]
(GSD VI) PYGL; glycogen phosphorylase, liver [HSA:5836] [KO:K00688]
(GSD VII) PFKM; phosphofructokinase, muscle [HSA:5213] [KO:K00850]
(GSD IXa) PHKA2; phosphorylase kinase alpha subunit, liver [HSA:5256] [KO:K07190]
(GSD IXb) PHKB; phosphorylase kinase beta subunit [HSA:5257] [KO:K07190]
(GSD IXc) PHKG2; phosphorylase kinase gamma subunit, liver [HSA:5261] [KO:K00871]
(GSD IXd) PHKA1; phosphorylase kinase alpha subunit, muscle [HSA:5255] [KO:K07190]
(GSD X) PGAM2; 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase [HSA:5224] [KO:K01834]
(GSD XI/FBS) SLC2A2; glucose transporter [HSA:6514] [KO:K07593]
(GSD XI) LDHA; lactate dehydrogenase A [HSA:3939] [KO:K00016]
(GSD XII) ALDOA; fructose-bisphosphate aldolase A [HSA:226] [KO:K01623]
(GSD XIII) ENO3; beta-enolase [HSA:2027] [KO:K01689]
(GSD XIV) PGM1; phosphoglucomutase-1 [HSA:5236] [KO:K01835]
(GSD XV) GYG1; glycogenin-1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2; 5'-AMP-activated protein kinase subunit gamma-2 [HSA:51422] [KO:K07200]
(GSD 0a) GYS2; glycogen synthase, liver [HSA:2998] [KO:K00693]
(GSD 0b) GYS1; glycogen synthase, muscle [HSA:2997] [KO:K00693]
Comment
Additional genes for phosphorylase kinase, which activates glycogen phosphorylase, may also be involved.
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006008
OMIM: 232200 232220 232240 232300 232400 232500 232600 232700 232800 306000 261750 613027 300559 261670 227810 612933 611881 612932 612934 613507 261740 240600 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
PMID:11949931 (GSD type I)
  Authors
Chou JY, Matern D, Mansfield BC, Chen YT
  Title
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
  Journal
Curr Mol Med 2:121-43 (2002)
DOI:10.2174/1566524024605798
Reference
PMID:11949932 (GSD type II)
  Authors
Raben N, Plotz P, Byrne BJ
  Title
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
  Journal
Curr Mol Med 2:145-66 (2002)
DOI:10.2174/1566524024605789
Reference
PMID:11949933 (GSD type III)
  Authors
Shen JJ, Chen YT
  Title
Molecular characterization of glycogen storage disease type III.
  Journal
Curr Mol Med 2:167-75 (2002)
DOI:10.2174/1566524024605752
Reference
PMID:11949934 (GSD type IV)
  Authors
Moses SW, Parvari R
  Title
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
  Journal
Curr Mol Med 2:177-88 (2002)
DOI:10.2174/1566524024605815
Reference
PMID:11949935 (GSD type V)
  Authors
Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM
  Title
Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
  Journal
Curr Mol Med 2:189-96 (2002)
DOI:10.2174/1566524024605770
Reference
PMID:8655128 (GSD type IX)
  Authors
Hendrickx J, Willems PJ
  Title
Genetic deficiencies of the glycogen phosphorylase system.
  Journal
Hum Genet 97:551-6 (1996)
DOI:10.1007/BF02281858
Reference
PMID:11949937 (GSD type XI)
  Authors
Santer R, Steinmann B, Schaub J
  Title
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
  Journal
Curr Mol Med 2:213-27 (2002)
DOI:10.2174/1566524024605743
Reference
PMID:16337419 (GSD type 0)
  Authors
Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI
  Title
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
  Journal
Mol Genet Metab 87:284-8 (2006)
DOI:10.1016/j.ymgme.2005.10.006
Reference
PMID:8447317 (GSD type X)
  Authors
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
  Title
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
  Journal
Am J Hum Genet 52:472-7 (1993)
Reference
PMID:2334430 (GSD type XI)
  Authors
Maekawa M, Sudo K, Kanno T, Li SS
  Title
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
  Journal
Biochem Biophys Res Commun 168:677-82 (1990)
DOI:10.1016/0006-291X(90)92374-9
Reference
PMID:8598869 (GSD type XII)
  Authors
Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
  Title
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
  Journal
N Engl J Med 334:1100-4 (1996)
DOI:10.1056/NEJM199604253341705
Reference
PMID:11506403 (GSD type XIII)
  Authors
Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
  Title
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
  Journal
Ann Neurol 50:202-7 (2001)
DOI:10.1002/ana.1095
Reference
PMID:19625727 (GSD type XIV)
  Authors
Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
  Title
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
  Journal
N Engl J Med 361:425-7 (2009)
DOI:10.1056/NEJMc0901158
Reference
PMID:20357282 (GSD type XV)
  Authors
Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
  Title
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
  Journal
N Engl J Med 362:1203-10 (2010)
DOI:10.1056/NEJMoa0900661
Reference
PMID:15877279 (GSD of Heart)
  Authors
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
  Title
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
  Journal
Am J Hum Genet 76:1034-49 (2005)
DOI:10.1086/430840
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