Glycogen Storage Disease II (GSDII) or Pompe Disease

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

Mutation: GAA gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.