Glycogen Storage Disease Type II, Pompe Disease

 

Gene: GAA

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, GAA gene; c.2237 G>A, p.(W746 STOP), exon15

Medical system: Metabolic disorder, lysosomal storage disease

Breeds: Finnish Lapphund, Lapponian Herder, Swedish Lapphund

Age of onset of symptoms: Around 6 months

Glycogen Storage Disease Type II, also known as Pompe disease, is a glycogen storage disease in which the animal does not have an enzyme (alpha-glucosidase) needed to efficiently degrade glycogen to glucose.  Consequently, glycogen accumulates in tissues such as the heart, brain, muscles and liver.  Since glucose is a major source of energy for cells, this results in reduced energy for cell metabolism.    Symptoms include generalized muscle weakness, enlarged esophagus and heart, vomiting and an increased risk of aspiration pneumonia.  The affected animal pants a lot, may have trouble breathing and barks abnormally.  This disease is usually lethal by one and a half years of age.

 

References:

OMIA link: [0419-9615]

Almodóvar-Payá A, Villarreal-Salazar M, de Luna N, et al. (2020) Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621.  [pubmed/33348688]

Seppala EH, Reuser AJJ, Lohi H. (2013) A nonsense mutation in the acid a-Glucosidase gene causes Pompe Disease in Finnish and Swedish Lapphunds.  PLoS ONE. 8(2):e56825. [pubmed/23457621]

Walvoort HC. (1985) Glycogen storage disease type II in the Lapland dog. Vet Q. 7(3):187-90.  [pubmed/3901497]