Glycogen Storage Disease Type II (GSD-II) is a genetic disease that changes the way the body stores and uses the form of sugar called glycogen. A mutation in a gene results in an insufficient amount of an enzyme that is needed for breaking apart glycogen into glucose so that it can be used as a primary source of energy by the body. Glycogen buildup occurs, which affects the ability of the organs in the body to properly function. This form of GSD leads to a dilated esophagus as well as an enlarged heart.
GAA
Autosomal recessive
Dogs with GSD-II typically present with clinical signs around 6 months of age. The disease rapidly progresses, leading to death around one to two years of age. Symptoms include cardiac abnormalities, weight loss, and regurgitation/vomiting. Respiratory distress may be apparent as a result of heart failure, and/or enlargement of the esophagus, which as a result loses its ability to move food into the stomach (megaesophagus).
A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. Laboratory tests and imaging of the heart and esophagus may be indicated to determine a diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.
Finnish Lapphund,
SeppÀlÀ 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. doi: 10.1371/journal.pone.0056825. Epub 2013 Feb 14. PMID: 23457621; PMCID: PMC3573005.
AlmodĂłvar-PayĂĄ A, Villarreal-Salazar M, de Luna N, Nogales-Gadea G, Real-MartĂnez A, Andreu AL, MartĂn MA, Arenas J, Lucia A, Vissing J, Krag T, PinĂłs T. Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci. 2020 Dec 17;21(24):9621. doi: 10.3390/ijms21249621. PMID: 33348688; PMCID: PMC7766110.
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
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