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Gangliosidosis (Portuguese Water Dog Type) Overview

Gangliosidosis (Portuguese Water Dog Type)
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US$ 85.00 REGISTERED USER PRICE
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: Galactosidase beta 1 (GLB1) on Chromosome 23

Variant Detected: Base Substitution c.179G>A p.Arg60His

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the 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,