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Glycogen Storage Disease Type III (GSD III)

General

Disease Name
Glycogen Storage Disease Type III (GSD III)
OMIA
1577
Gene Name
AGL
Mutation
c.4223delA
OMIM
232400
Disease Code
GSD III
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
Gene Name Text
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
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