Disease overview

Glycogen Storage Disease Type IA (GSD-IA) 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 process can lead to organ enlargement. This form of GSD is a fatal condition, and puppies will typically die before two months of age.

Gene name

G6PC

Inheritance

Autosomal recessive

Signs and symptoms

Dogs with GSD-IA usually present with clinical signs in the first few weeks of age. These include poor growth, lethargy, failure to thrive, enlarged liver (hepatomegaly), as well as coma and death. This is a fatal condition, and puppies will typically die before two months of age.

How is it diagnosed

A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. Laboratory tests and a liver biopsy may be indicated to help determine a diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

, Maltese Terriers

Citations

Christen M, Reineking W, Beineke A, Jagannathan V, Baumgärtner W, Leeb T. Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A). Anim Genet. 2021 Dec;52(6):900-902. doi: 10.1111/age.13146. Epub 2021 Oct 5. PMID: 34610166; PMCID: PMC9293233.

Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med. 1997 Aug;61(2):168-77. doi: 10.1006/bmme.1997.2600. PMID: 9259982.

Almodóvar-Payá A, Villarreal-Salazar M, de Luna N, Nogales-Gadea G, Real-Martínez A, Andreu AL, Martín MA, Arenas J, Lucia A, Vissing J, Krag T, Pinós 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.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.