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Glycogen Storage Disease Type III (GSD III)
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
General
Disease Name
Glycogen Storage Disease Type III (GSD III)
OMIA
1577
Gene Name
AGL
Mutation
c.4223delA
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 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
OMIA Url
Inheritance
AR
