Dog Glycogen Storage Disease Ia (GSD Ia)
Dog glycogen storage disease Ia is an inherited metabolic disorder resulting from a deficiency in the enzyme glucose 6-phosphatase- α (G6Pase). Without G6Pase activity, all endogenous glucose production is impaired as this enzyme catalyzes the final step of both gluconeogenesis and glycogenolysis. Consequently, circulating blood glucose levels cannot be increased in response to positive glucoregulatory stimuli leading to a condition characterized by fasting hypoglycemia, as well as accumulation of glycogen and fat, particularly within liver and kidney tissues. Shunting of glucose-6-phosphate (G6P) into alternative metabolic pathways results in lactic acidosis, hypertriglyceridemia, and hyperuricemia. Current therapy for dog glycogen storage disease Ia consists of sufficient carbohydrate supplementation, however, neither treatment prevents hypoglycemia and lactic acidosis entirely.
Kishnani, P.S., Faulkner, E., VanCamp, S., Jackson, M., Brown, T., Boney, A., Koeberl, D., and Chen, Y.T. (2001). Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet. Pathol. 38, 83–91.
Specht, A., Fiske, L., Erger, K., Cossette, T., Verstegen, J., Campbell-Thompson, M., Struck, M.B., Lee, Y.M., Chou, J.Y., Byrne, B.J., et al. (2011). Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease. BioMed Research International 2011, e646257.