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Gangliosidosis (Portuguese Water Dog Type) Overview

Gangliosidosis (Portuguese Water Dog Type)
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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

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

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): Portuguese Water Dog,  Mixed Breed,