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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.
$ 50.00
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Associated Breed(s):
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Category:
Genetic Diseases
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.
Gene:
Galactosidase beta 1 (GLB1) on Chromosome 23
Variant Detected:
Base Substitution c.179G>A p.Arg60His
Mode of Inheritance:
Recomended Screening:
Research Citation(s):