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Glycogen Storage Disease Ia (GSD Ia) Maltese Type
| Acronym: | GSD Ia |
| Gene: | G6PC |
| Mutation: | c.363G>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
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.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
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.