Glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism that occur in all species and result in glycogen accumulation in tissue and disturbed glucose homeostasis. The disease is characterized by a deficiency in glycogen debranching enzymes. Dogs affected with glycogen storage disease type II show esophageal dilation induced vomiting, progressive muscular weakness, clinical heart disease, and myocardial hypertrophy, the severity of which requires euthanasia at about 1.5 years of age.
Inheritance: autosomal recessive- read more
Mutation: GAA gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: Finnish and Swedish Lapphunds, Lapponian Herder
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.