Glycogen Storage Disease IIIa (GSD IIIa) – Curly Coated Retriever
Kodas: H813
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 | |
|---|---|
| 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
- 10 working days