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Gangliosidosis GM2 (Japanese Chin Type)

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Description:

This is an inherited storage disorder affecting dogs. Affected dogs have insufficient activity of the enzyme hexosaminidase A, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein in cells, especially in cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 15 to 18 months of age. Symptoms include loss of balance, altered mental state and vision loss. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die within several months of initial presentation.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HEXA

Variant Detected:

c967G>A

Severity:

Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Mol Genet Metab. 2013 Jan;108(1):70-5

Associated Breed(s):

Japanese Chin, Mixed Breed,

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