Glycogen storage diseases (GSD), including:
von Gierke disease (GSD type Ia);
Pompe disease (GSD type II);
Cori disease, Forbe disease (GSD type III);
Andersen disease (GSD type IV);
McArdle disease (GSD type V);
Hers disease (GSD type VI);
Tarui disease (GSD type VII);
Phosphorylase kinase deficiency (GSD type IX);
Fanconi-Bickel syndrome (GSD type XI);
Glycogen synthase deficiency (GSD type 0)

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.

Inherited metabolic disease

(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]

Creatine kinase (GSD II)
Glycogen [CPD:C00182]

Myozyme [DR:D03207] (GSD II)

Additional genes for phosphorylase kinase, which activates glycogen phosphorylase, may also be involved.

PMID:17552001

Ozen H

Glycogen storage diseases: new perspectives.

World J Gastroenterol 13:2541-53 (2007)

PMID:17027861

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)