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Gangliosidosis (Portuguese Water Dog Type)
Test Overview:
Affected dogs typically present with symptoms of neurologic disease around 2 to 6 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the Enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. Symptoms include vision loss, Nystagmus, difficulties walking, loss of balance, head tremors, abnormal bone growth and weight loss
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
Galactosidase beta 1 (GLB1) on Chromosome 23
Variant Detected:
Base Substitution c.179G>A p.Arg60His
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Wang, ZH. Isolation and characterization of the normal canine ?-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. (2000) J Inherit Metab Dis, 23;593-606.
Associated Breed(s):
Mixed Breed, Porti-Doodle, Portuguese Water Dog,
