Glycogen Storage Disease Type IIIa, GSDIIIa

 

Gene: AGL

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, AGL gene;  c.4223 del.A, p.(K1408S fs STOP 6), exon32

Medical system: Metabolic

Breeds: Curly-Coated Retriever

Age of onset of symptoms: First year of life

Glycogen Storage Disease Type IIIa is a genetic disorder that affects the energy use of cells.  Due to a defect in glycogen debranching enzyme, there is an inability to efficiently convert glycogen into glucose.  This results in reduced glucose in the blood (hypoglycemia) and an accumulation of abnormal glycogen molecules in muscle and liver cells.  Clinical signs appear in the puppy’s first year of life and may include lack of energy (lethargy), exercise intolerance, hypoglycemia, hepatomegaly and sometimes loss of consciousness. Symptoms tend to become more severe with age.

 

References:

OMIA link: [1577-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Almodóvar-Payá A, Villarreal-Salazar M, de Luna N, et al. (2020) Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621.  [pubmed/33348688]

Brooks ED, Yi H, Austin SL, Thurberg BL, Young SP, et al. (2016) Natural Progression of Canine Glycogen Storage Disease Type IIIa.  Comp Med. 66(1):41-51 [pubmed/26884409]

Yi H, Thurberg BL, Curtis S, Austin S, Fyfe J, et al. (2012) Characterization of a canine model of glycogen storage disease type IIIa.  Dis Model Mech. 5 (6):804-11. [pubmed/22736456]

Gregory BL, Shelton GD, Bali DS, et al. (2007) Glycogen storage disease type IIIa in Curly-coated retrievers.  J Vet Intern Med 21:40-46. [pubmed/17338148]