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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.
Metabolic - Associated with the enzymes and metabolic processes of cells
It is a trait and so is tested based on preference, not usually for health concerns.
Mode of Inheritance:
Mol Genet Metab. 2013 Jan;108(1):70-5
Associated Breed(s):Japanese Chin, Mixed Breed,