The detail information of Glycogen storage disease
Basic Information

Disease Ontology ID: DDTO:0000684

Disease Description: A syndrome characterized by an inability to store and utilize carbohydrates.

Inherit Mode: -

Disease Symptom: -

Disease Cause: -

Disease Diagnose: Specific DNA-based carrier tests are needed for definitive, noninvasive diagnosis and to prevent at-risk matings. It has been recently suggested that glycogen storage disease type IIIa (GSD IIIa) is caused by a mutation of the glycogen debranching enzyme gene (AGL) in Curly-Coated Retrievers.

Treat Method: There are no effective treatments for these diseases and most animals are euthanized due to progressive debilitation within the first one to two years of life. However, advances in gene therapy have led to the development of new treatments for inherited disorders of metabolism.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Glycogen storage disease Ia - Autosomal Recessive -
Glycogen storage disease II - - -
Glycogen storage disease VII - Autosomal Recessive -
Glycogen storage disease IIIa - Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB4 Akita Dignified, courageous, and profoundly loyal to their humans 66-71.1 cm (male), 61-66 cm (female) 45.4-59 kg (male), 31.8-45.4 kg (female) Japan
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
CB138 Korean Jindo oyalty and gentle nature 48 to 53 cm(males), 45 to 50 cm(females) South Korea
CB188 Poodle Proud, active and very smart 25.4 cm & under (toy), 25.4-38.1 cm (miniature), over 38.1 cm (standard) 1.8-2.7 kg (toy), 4.5-6.8 kg (miniature), 27.2-31.8 kg (male standard), 18.1-22.7 kg (female standard) Germany, France
Associated Disease Variants from OMIA
Gene Differential Expression
References
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2019 Kang,H.R.,Gjorgjieva,M.,Smith,S.N.,Brooks,E.D.,Chen,Z.,Burgess,S.M.,Chandler,R.J.,Waskowicz,L.R.,Grady,K.M.,Li,S.,Mithieux,G.,Venditti,C.P.,Rajas,F.,Koeberl,D.D.: :
Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease. Mol Ther Methods Clin Dev 15:383-391, 2019.
Pubmed reference: 31890731 . DOI: 10.1016/j.omtm.2019.10.016 .
2018 Brooks,E.D.,Landau,D.J.,Everitt,J.I.,Brown,T.T.,Grady,K.M.,Waskowicz,L.,Bass,C.R.,D'Angelo,J.,Asfaw,Y.G.,Williams,K.,Kishnani,P.S.,Koeberl,D.D.: :
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. J Inherit Metab Dis :, 2018.
Pubmed reference: 30043186 . DOI: 10.1007/s10545-018-0223-y .
2018 Lee,Y.M.,Conlon,T.J.,Specht,A.,Coleman,K.E.,Brown,L.M.,Estrella,A.M.,Dambska,M.,Dahlberg,K.R.,Weinstein,D.A.: :
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia. J Inherit Metab Dis 41:977-984, 2018.
Pubmed reference: 29802554 . DOI: 10.1007/s10545-018-0199-7 .
2016 Brooks,E.D.,Yi,H.,Austin,S.L.,Thurberg,B.L.,Young,S.P.,Fyfe,J.C.,Kishnani,P.S.,Sun,B.: :
Natural Progression of Canine Glycogen Storage Disease Type IIIa. Comp Med 66:41-51, 2016.
Pubmed reference: 26884409 .
2014 Yi,H.,Brooks,E.D.,Thurberg,B.L.,Fyfe,J.C.,Kishnani,P.S.,Sun,B.: :
Correction of glycogen storage disease type III with rapamycin in a canine model. J Mol Med (Berl) :, 2014.
Pubmed reference: 24509886 . DOI: 10.1007/s00109-014-1127-4 .
2013 Brooks,E.D.,Little,D.,Arumugam,R.,Sun,B.,Curtis,S.,Demaster,A.,Maranzano,M.,Jackson,M.W.,Kishnani,P.,Freemark,M.S.,Koeberl,D.D.: :
Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab :, 2013.
Pubmed reference: 23623482 . DOI: 10.1016/j.ymgme.2013.03.018 .
2013 Seppälä,E.H.,Reuser,A.J.,Lohi,H.: :
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013.
Pubmed reference: 23457621 . DOI: 10.1371/journal.pone.0056825 .
2012 Demaster,A.,Luo,X.,Curtis,S.,Williams,K.D.,Landau,D.J.,Drake,E.J.,Kozink,D.M.,Bird,A.,Crane,B.,Sun,F.,Pinto,C.R.,Brown,T.T.,Kemper,A.R.,Koeberl,D.D.: :
Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther 23:407-18, 2012.
Pubmed reference: 22185325 . DOI: 10.1089/hum.2011.106 .
2012 Koeberl,D.D.: :
In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis 35:671-8, 2012.
Pubmed reference: 22310927 . DOI: 10.1007/s10545-012-9454-5 .
2012 Yi,H.,Thurberg,B.L.,Curtis,S.,Austin,S.,Fyfe,J.,Koeberl,D.D.,Kishnani,P.S.,Sun,B.: :
Characterization of a canine model of glycogen storage disease type IIIa. Dis Model Mech 5:804-11, 2012.
Pubmed reference: 22736456 . DOI: 10.1242/dmm.009712 .
2012 InalGultekin,G.,Raj,K.,Lehman,S.,Hillström,A.,Giger,U.: :
Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes 26:243-7, 2012.
Pubmed reference: 22446493 . DOI: 10.1016/j.mcp.2012.02.004 .
2011 Hillström,A.,Tvedten,H.,Rowe,A.,Giger,U.: :
Hereditary phosphofructokinase deficiency in wachtelhunds. J Am Anim Hosp Assoc 47:145-50, 2011.
Pubmed reference: 21311071 . DOI: 10.5326/JAAHA-MS-5619 .
2011 Crane,B.,Luo,X.,Demaster,A.,Williams,KD.,Kozink,DM.,Zhang,P.,Brown,TT.,Pinto,CR.,Oka,K.,Sun,F.,Jackson,MW.,Chan,L.,Koeberl,DD.: :
Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther :, 2011.
Pubmed reference: 21654821 . DOI: 10.1038/gt.2011.86 .
2011 Specht,A.,Fiske,L.,Erger,K.,Cossette,T.,Verstegen,J.,Campbell-Thompson,M.,Struck,MB.,Lee,YM.,Chou,JY.,Byrne,BJ.,Correia,CE.,Mah,CS.,Weinstein,DA.,Conlon,TJ.: :
Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol 2011:646257, 2011.
Pubmed reference: 21318173 . DOI: 10.1155/2011/646257 .
2010 Weinstein,DA.,Correia,CE.,Conlon,T.,Specht,A.,Verstegen,J.,Onclin-Verstegen,K.,Campbell-Thompson,M.,Dhaliwal,G.,Mirian,L.,Cossette,H.,Falk,DJ.,Germain,S.,Clement,N.,Porvasnik,S.,Fiske,L.,Struck,M.,Ramirez,HE.,Jordan,J.,Andrutis,K.,Chou,JY.,Byrne,BJ.,Mah,CS.: :
Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21:903-10, 2010.
Pubmed reference: 20163245 . DOI: 10.1089/hum.2009.157 .
2009 Koeberl,D.D.,Pinto,C.,Brown,T.,Chen,Y.T.: :
Gene therapy for inhereted metabolic disorders in companion animals. ILAR J 50:122-7, 2009.
Pubmed reference: 19293457 .
2009 Gerber,K.,Harvey,JW.,D'Agorne,S.,Wood,J.,Giger,U.: :
Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol 38:46-51, 2009.
Pubmed reference: 19228357 . DOI: 10.1111/j.1939-165X.2008.00089.x .
2008 Koeberl,DD.,Pinto,C.,Sun,B.,Li,S.,Kozink,DM.,Benjamin,DK.,Demaster,AK.,Kruse,MA.,Vaughn,V.,Hillman,S.,Bird,A.,Jackson,M.,Brown,T.,Kishnani,PS.,Chen,YT.: :
AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16:665-72, 2008.
Pubmed reference: 18362924 . DOI: 10.1038/mt.2008.15 .
2007 Gregory,BL.,Shelton,GD.,Bali,DS.,Chen,YT.,Fyfe,JC.: :
Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007.
Pubmed reference: 17338148 .
2006 Harvey,J.W.: :
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol 35:144-56, 2006.
Pubmed reference: 16783707 .
2002 Beaty,R.M.,Jackson,M.,Peterson,D.,Bird,A.,Brown,T.,Benjamin,D.K.,Juopperi,T.,Kishnani,P.,Boney,A.,Chen,Y.T.,Koeberl,D.D.: :
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors Gene Therapy 9:1015-1022, 2002.
Pubmed reference: 12101432 . DOI: 10.1038/sj.gt.3301728 .
2001 Skibild,E.,Dahlgaard,K.,Rajpurohit,Y.,Smith,B.F.,Giger,U.: :
Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels Journal of Small Animal Practice 42:298-300, 2001.
Pubmed reference: 11440399 .
2001 Kishnani,P.S.,Faulkner,E.,VanCamp,S.,Jackson,M.,Brown,T.,Boney,A.,Koeberl,D.,Chen,Y.T.: :
Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia) Veterinary Pathology 38:83-91, 2001.
Pubmed reference: 11199168 .
1999 McCully,K.,Chance,B.,Giger,U.: :
In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency Muscle & Nerve 22:621-627, 1999.
Pubmed reference: 10331362 .
1997 Kishnani,P.S.,Bao,Y.,Wu,J.Y.,Brix,A.E.,Lin,J.L.,Chen,Y.T.: :
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-77, 1997.
Pubmed reference: 9259982 .
1996 Smith,B.F.,Henthorn,P.S.,Rajpurohit,Y.,Stedman,H.,Wolfe,J.H.,Patterson,D.F.,Giger,U.: :
A cDNA encoding canine muscle-type phosphofructokinase. Gene 168:275-6, 1996.
Pubmed reference: 8654960 .
1996 Smith,B.F.,Stedman,H.,Rajpurohit,Y.,Henthorn,P.S.,Wolfe,J.H.,Patterson,D.F.,Giger,U.: :
Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistry 271:20070-20074, 1996.
Pubmed reference: 8702726 .
1995 Brix,A.E.,Howerth,E.W.,Mcconkierosell,A.,Peterson,D.,Egnor,D.,Wells,M.R.,Chen,Y.T.: :
Glycogen storage disease type Ia in two littermate maltese puppies Veterinary Pathology 32:460-465, 1995.
Pubmed reference: 8578635 .
1994 Brechue,W.F.,Gropp,K.E.,Ameredes,B.T.,Odrobinak,D.M.,Stainsby,W.N.,Harvey,J.W.: :
Metabolic and work capacity of skeletal muscle of PFK- deficient dogs studied in situ Journal of Applied Physiology 77:2456-2467, 1994.
Pubmed reference: 7868469 .
1994 Harvey,J.W.,Smith,J.E.: :
Haematology and Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency Comparative Haematology International 4:70-75, 1994.
1993 Reuser,A.J.J.: :
Molecular Biology, Therapeutic Trials and Animal Models of Lysosomal Storage Diseases - Type-II Glycogenosis as an Example Annales de Biologie Clinique 51:218-219, 1993.
1992 Giger,U.,Smith,B.F.,Woods,C.B.,Patterson,D.F.,Stedman,H.: :
Inherited Phosphofructokinase Deficiency in an American Cocker Spaniel Journal of the American Veterinary Medical Association 201:1569-1571, 1992.
Pubmed reference: 1289336 .
1992 Mhaskar,Y.,Harvey,J.W.,Dunaway,G.A.: :
Developmental Changes of 6-Phosphofructo-1-Kinase Subunit Levels in Erythrocytes from Normal Dogs and Dogs Affected by Glycogen Storage Disease Type-VII Comparative Biochemistry and Physiology B - Comparative Biochemistry 101:303-307, 1992.
1991 Mhaskar,Y.,Giger,U.,Dunaway,G.A.: :
Presence of a Truncated M-Type Subunit and Altered Kinetic Properties of 6-Phosphofructo-1-Kinase Isozymes in the Brain of a Dog Affected by Glycogen Storage Disease Type-VII Enzyme 45:137-144, 1991.
Pubmed reference: 1840037 .
1990 Harvey,J.W.,Mays,M.B.C.,Gropp,K.E.,Denaro,F.J.: :
Polysaccharide Storage Myopathy in Canine Phosphofructokinase Deficiency (Type-VII Glycogen Storage Disease) Veterinary Pathology 27:1-8, 1990.
Pubmed reference: 2137952 .
1988 Giger,U.,Argov,Z.,Schnall,M.,Bank,W.J.,Chance,B.: :
Metabolic myopathy in canine muscle-type phosphofructokinase deficiency. Muscle Nerve 11:1260-5, 1988.
Pubmed reference: 2976895 . DOI: 10.1002/mus.880111210 .
1987 Roudebush,P.,Easley,J.R.,Harvey,J.W.: :
Nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency in an English Springer Spaniel Journal of Small Animal Practice 28:513-516, 1987.
1987 Giger,U.,Harvey,J.W.: :
Hemolysis caused by phosphofructokinase deficiency in English Springer Spaniels: seven cases Journal of the American Veterinary Medical Association 191:453-459, 1987.
Pubmed reference: 2958437 .
1986 Giger,U.,Reilly,MP.,Asakura,T.,Baldwin,CJ.,Harvey,JW.: :
Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs. Anim Genet 17:15-23, 1986.
Pubmed reference: 2940948 .
1985 Giger,U.,Harvey,JW.,Yamaguchi,RA.,McNulty,PK.,Chiapella,A.,Beutler,E.: :
Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. Blood 65:345-51, 1985.
Pubmed reference: 3155631 .
1985 Vora,S.,Giger,U.,Turchen,S.,Harvey,JW.: :
Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII. Proc Natl Acad Sci U S A 82:8109-13, 1985.
Pubmed reference: 2933748 .
1985 Walvoort,HC.,Koster,JF.,Reuser,AJ.: :
Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci 38:174-8, 1985.
Pubmed reference: 3923581 .
1985 Walvoort,HC.,Dormans,JA.,vandenIngh,TS.: :
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985.
Pubmed reference: 3921759 .
1985 Walvoort,HC.: :
Glycogen storage disease type II in the Lapland dog. Vet Q 7:187-90, 1985.
Pubmed reference: 3901497 .
1984 Walvoort,HC.,Slee,RG.,Sluis,KJ.,Koster,JF.,Reuser,AJ.: :
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984.
Pubmed reference: 6391168 . DOI: 10.1002/ajmg.1320190323 .
1983 Walvoort,HC.: :
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983.
Pubmed reference: 6408305 .
1983 Walvoort,HC.: :
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983.
Pubmed reference: 6408305 .
1982 Walvoort,HC.,Slee,RG.,Koster,JF.: :
Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta 715:63-9, 1982.
Pubmed reference: 7041988 .
1977 Otani,T.,Mochizuki,H.: :
[Glycogen storage disease (III ?) of dogs]. Jikken Dobutsu 26:172-3, 1977.
Pubmed reference: 267585 .
1976 Ceh,L.,Hauge,J.G.,Svenkerud,R.,Strande,A.: :
Glycogenosis type III in the dog. Acta Vet Scand 17:210-22, 1976.
Pubmed reference: 181976 .
1976 Rafiquzzaman,M.,Svenkerud,R.,Strande,A.,Hauge,J.G.: :
Glycogenosis in the dog. Acta Vet Scand 17:196-209, 1976.
Pubmed reference: 1066041 .
1970 Mostafa,I.E.: :
A case of glycogenic cardiomegaly in a dog Acta Veterinaria Scandinavica 11:197-208, 1970.
Pubmed reference: 5270856 .