Other Names: Glycogen storage disease II, Pompe's disease, GSD II
Inheritance: Autosomal Recessive
Mutation(s): G>A
Affected Gene(s): GAA
Affected Breed(s): Finnish Lapphund, Lapponian Herder, Swedish Lapphund

Common Symptoms

Pompe disease is an inherited metabolic disorder affecting dogs. Glycogen is the primary carbohydrate used by the body for energy. Affected dogs do not have sufficient enzymes to break down glycogen causing accumulation of glycogen in the multiple organs, including muscle, liver, heart and brain. Affected puppies typically present at about 6 months of age with generalized muscle weakness. Dogs with this disease develop an enlarged heart and dilated esophagus (megaesophagus). Megaesophagus causes regurgitation and vomiting and predisposes dogs to aspiration pneumonia. Over time the muscle weakness and regurgitation/vomiting worsen. Dogs may also have an unusual sounding bark, pant excessively and have difficulty breathing. Dogs usually are euthanized or die of heart failure by 1.5 years of age.

References

  • Seppälä EH, Reuser AJ, Lohi H. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One. 2013;8(2):e56825. [PubMed: 23457621]
  • Walvoort HC. Glycogen storage disease type II in the Lapland dog. Vet Q. 1985. Jul;7(3):187-90. Review. [PubMed: 3901497]