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Dog DNA testing illustration

Glycogen Storage Disease IIIa (GSD IIIa) – Curly Coated Retriever

Code: H813

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Glycogen Storage Disease IIIa (GSD IIIa) belongs to a group of autosomal recessive disorders affecting glycogen metabolism.

General information

Glycogen Storage Disease IIIa (GSD IIIa) belongs to a group of autosomal recessive disorders affecting glycogen metabolism. GSDs are categorized based on the specific enzyme defect. In healthy dogs, glycogen breakdown is stimulated by the release of glucagon. Affected dogs have a deficiency in the glycogen debranching enzyme. As a result, glycogen is not broken down into glucose but accumulates as abnormal glycogen particles. Glycogen deposits are found in the muscle and liver.

Specifications

Breeds

Curly-coated retriever
Gene

AGL
Chromosome

6
Mutation

c.4223delA
Organ

Digestive System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

GSD IIIa, GSD III

Clinical features

Affected dogs may suffer from lethargy, exercise intolerance, and collapsing after exercising. These symptoms can start at an age of 14 months. Abnormally high glycogen deposits can be found in the muscles and liver, which are associated with age-related liver fibrosis and muscle damage. Elevated enzyme levels of AST, ALT, ALP, and CK can be detected in the serum.

References

Pubmed ID: 17338148

Year published: 2007

Omia ID: 1577

Omia variant ID:

Turnaround information

  • 15 working days