Disease overview

Glycogen Storage Disease Type IIIA (GSD-IIIA) is a genetic disease that changes the way the body stores and uses the form of sugar called glycogen. A mutation in the AGL gene results in an insufficient amount of an enzyme that is needed for breaking apart glycogen into glucose so that it can be used as a primary source of energy by the body. Glycogen buildup occurs, which affects the ability of the organs in the body to properly function. This process can lead to organ enlargement.

Gene name

AGL

Inheritance

Autosomal recessive

Signs and symptoms

Dogs with GSD typically present with clinical signs around 14 months of age, including poor growth, lethargy, and mildly low blood sugar levels.

How is it diagnosed

A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. Labwork and a liver biopsy may be indicated to help determine a diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med. 2007 Jan-Feb;21(1):40-6. doi: 10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2. PMID: 17338148.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.