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Gangliosidosis GM2 (Poodle Type)
Description

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.

Diseases

Gangliosidosis GM2 (Poodle Type)

$ 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:

Hexosaminidase subunit beta (HEXB) on Chromosome 2

Variant Detected:

Nucleotide Deletion c.391delG p.Val95fsX

Mode of Inheritance:

Recomended Screening:

Research Citation(s):

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