KEGG DISEASE: Glycogen storage disease

DISEASE: Glycogen storage disease

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 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
     H00069  Glycogen storage disease
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06017  Glycogen metabolism
   H00069  Glycogen storage disease

Pathway

hsa00500

Starch and sucrose metabolism

hsa00010

Glycolysis / Gluconeogenesis

Network

nt06017 Glycogen metabolism

Gene

(GSD1A) G6PC1 [HSA:2538] [KO:K01084]
(GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
(GSD2) GAA [HSA:2548] [KO:K12316]
(GSD3) AGL [HSA:178] [KO:K01196]
(GSD4) GBE1 [HSA:2632] [KO:K00700]
(GSD5) PYGM [HSA:5837] [KO:K00688]
(GSD6) PYGL [HSA:5836] [KO:K00688]
(GSD7) PFKM [HSA:5213] [KO:K00850]
(GSD9A) PHKA2 [HSA:5256] [KO:K07190]
(GSD9B) PHKB [HSA:5257] [KO:K07190]
(GSD9C) PHKG2 [HSA:5261] [KO:K00871]
(GSD9D) PHKA1 [HSA:5255] [KO:K07190]
(GSD10) PGAM2 [HSA:5224] [KO:K01834]
(GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
(GSD11) LDHA [HSA:3939] [KO:K00016]
(GSD12) ALDOA [HSA:226] [KO:K01623]
(GSD13) ENO3 [HSA:2027] [KO:K01689]
(GSD14) PGM1 [HSA:5236] [KO:K01835]
(GSD15) GYG1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2 [HSA:51422] [KO:K07200]
(GSD0A) GYS2 [HSA:2998] [KO:K00693]
(GSD0B) GYS1 [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

PMID:17552001

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

PMID:17027861

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

» Japanese version

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Gene (40)   
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