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Gangliosidosis GM2 (Poodle Type)

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Test Overview:

GM2 gangliosidosis (poodle type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Hexosaminidase subunit beta (HEXB) on Chromosome 2

Variant Detected:

Nucleotide Deletion c.391delG p.Val95fsX

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):

Rahman, M.M. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (2012), The Veterinary Journal, 194(3);412–416.

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Cockapoo, Dwarf Poodle, Goldendoodle, Groodle, Labradoodle , Labradoodle Retrodoodle , Mixed Breed, Schnoodle, Toy Poodle,

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