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Glycogen Storage Disease VII (GSD VII)
Breed: Cockapoo
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Glycogen Storage Disease VII (GSD VII)
OMIA
421
Gene Name
PFKM
Mutation
c.550C>T
Mutation 2
c.2228G>A
Test Type
Genetic Disease/Disorder
Details
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type VII: exercise intolerance, muscle cramps, occasional hemolytic crisis
Details 2
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type VII: exercise intolerance, muscle cramps, occasional hemolytic crisis
Published
Inal Gultekin, 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.
Published 2
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. ; Karen Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Published 3
Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Published 4
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. ; Karen Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PFKM
Mutation
c.2228G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.2228G>A
Mutation Comment
g.6620819C>T
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