Glycogen storage disease type II (GSDII) or Pompe Diseaseis a hereditary disease that can be tested with a DNA test. 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 hereditary 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:  The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.