The detail information of Glycogen storage disease VII
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 1996

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB272 American Cocker Spaniel 38 cm (male), 36cm (female) United States
CB94 English Cocker Spaniel 40.6-43.2 cm (male), 38.1-40.6 cm (female) 12.7-15.4 kg (male), 11.8-14.5 kg (female) United Kingdom (England)
CB256 English Whippet 48.3-55.9 cm (male), 45.7-53.3 cm (female) 11.3-18.1 kg England
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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.
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 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 .
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.
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 .