KEGG   DISEASE: Glycogen storage disease
H00069                      Disease                                

Glycogen storage disease
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]
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.
Congenital disorder of metabolism
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
hsa00010  Glycolysis / Gluconeogenesis
hsa00500  Starch and sucrose metabolism
hsa04922  Glucagon signaling pathway
hsa04910  Insulin signaling pathway
nt06017  Glycogen metabolism
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
N00817  Mutation-inactivated SLC37A4 to transport of glucose 6-phosphate
N00819  Mutation-inactivated SLC2A2 to transport of glucose
(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]
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
Ozen H
Glycogen storage diseases: new perspectives.
World J Gastroenterol 13:2541-53 (2007)
Shin YS
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Semin Pediatr Neurol 13:115-20 (2006)
PMID:11949931 (GSD type I)
Chou JY, Matern D, Mansfield BC, Chen YT
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
Curr Mol Med 2:121-43 (2002)
PMID:11949932 (GSD type II)
Raben N, Plotz P, Byrne BJ
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Curr Mol Med 2:145-66 (2002)
PMID:11949933 (GSD type III)
Shen JJ, Chen YT
Molecular characterization of glycogen storage disease type III.
Curr Mol Med 2:167-75 (2002)
PMID:11949934 (GSD type IV)
Moses SW, Parvari R
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
Curr Mol Med 2:177-88 (2002)
PMID:11949935 (GSD type V)
Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM
Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
Curr Mol Med 2:189-96 (2002)
PMID:8655128 (GSD type IX)
Hendrickx J, Willems PJ
Genetic deficiencies of the glycogen phosphorylase system.
Hum Genet 97:551-6 (1996)
PMID:11949937 (GSD type XI)
Santer R, Steinmann B, Schaub J
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
Curr Mol Med 2:213-27 (2002)
PMID:16337419 (GSD type 0)
Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
Mol Genet Metab 87:284-8 (2006)
PMID:8447317 (GSD type X)
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
Am J Hum Genet 52:472-7 (1993)
PMID:2334430 (GSD type XI)
Maekawa M, Sudo K, Kanno T, Li SS
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
Biochem Biophys Res Commun 168:677-82 (1990)
PMID:8598869 (GSD type XII)
Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
N Engl J Med 334:1100-4 (1996)
PMID:11506403 (GSD type XIII)
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
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
Ann Neurol 50:202-7 (2001)
PMID:19625727 (GSD type XIV)
Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
N Engl J Med 361:425-7 (2009)
PMID:20357282 (GSD type XV)
Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
N Engl J Med 362:1203-10 (2010)
PMID:15877279 (GSD of Heart)
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
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.
Am J Hum Genet 76:1034-49 (2005)

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