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Glycogen Storage Disease Type III (GSD III)

Breed: Maltese

Generic Phene Data

Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
GTPs
DNA My Dog
Orivet Genetic Pet Care

General

Disease Name
Glycogen Storage Disease Type III (GSD III)
OMIA
1577
Gene Name
AGL
Mutation
c.4223delA
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
TBA, Glycogenesis III
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 III: lethargy, exercise intolerance and collapse ( 14 months of age)
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 III: lethargy, exercise intolerance and collapse ( 14 months of age)
Published
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.
Body/System/Process
Metabolic
Inheritance
AR

Key Comment

This form not currently reported. Please see GST Type II

HSP Test-Specific Data

DNA My Dog

GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type IIIa
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
65
GTP Breed
Maltese

Orivet Genetic Pet Care

GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type IIIa
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
FCI Number
65
GTP Breed
Maltese
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