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Gangliosidosis (Portuguese Water Dog Type) Overview

Gangliosidosis (Portuguese Water Dog Type)
US$ 94.00 RRP
US$ 85.00 REGISTERED USER PRICE
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: GLB1 on Chr 23

Variant Detected: c.200G>A

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): Saunders GK, Wood PA, Myers RK, Shell LG, Carithers R. GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings. Vet Pathol. 1988 Jul;25(4):265-9. [PubMed: 3136586]
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. 23 (2000) 593-606.


Associated Breed(s): Portuguese Water Dog,  Mixed Breed,