Disease overview

Gangliosidosis is an inherited lysosomal storage disease. Lysosomes are important components of cells that are crucial for the breakdown and recycling of waste. If lysosomes do not function properly, waste accumulates and leads to cell death. This disease results in a buildup of a fatty substance called ganglioside, due to insufficient activity of the enzyme hexosaminidase a\A. It is a multisystem disease; however, ganglioside accumulates primarily in cells throughout the nervous system.

Gene name

GLB1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs typically present with neurological signs such as difficulty walking (ataxia), altered mentation, seizures, deafness, and blindness. These signs are early-onset, occurring around 12 to 18 months of age.

How is it diagnosed

Clinical signs such as ataxia or seizures are generally only suggestive, as there are many other disease processes with similar presentation. Veterinarians are likely to order an MRI or CT scan of the brain. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics. 2005 Aug;170(4):1857-61. doi: 10.1534/genetics.105.042580. Epub 2005 Jun 8. PMID: 15944348; PMCID: PMC1449761.

Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis. 2000 Sep;23(6):593-606. doi: 10.1023/a:1005630013448. PMID: 11032334.

Yamato O, Endoh D, Kobayashi A, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Tajima M, Yamasaki M, Maede Y. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis. 2002 Oct;25(6):525-6. doi: 10.1023/a:1021280007739. PMID: 12555949.

Disclaimer

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