Disease Detail Information

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	Height	Weight	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

Symbol	Description	Species	Position	Other Links
PFKM	phosphofructokinase, muscle	Canis lupus familiaris	Chr27 : 6732671 - 6687848	Homologene, Ensembl, NCBI gene

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 .