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Glycogen Storage Disease Type Ia (GSD Ia)

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Glycogen Storage Disease Type Ia (GSD Ia)
Mutation
c.363G>C
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 form I-a is it's generally associated with toy breeds.
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 form I-a is it's generally associated with toy breeds.
Published
Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-77, 1997. Pubmed reference: 9259982.
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