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A DNA test for Fucosidosis in dogs
What is Fucosidosis?
Fucosidosis is a hereditary disease that occurs when a dog has a mutation in
a gene that codes for the enzyme alpha-fucosidase. This enzyme breaks down complex
molecules (polysaccharides) so that they can be recycled and/or removed from a cell.
The genetic mutation causes a deficiency of alpha-fucosidase; consequently, complex
molecules accumulate inside the cell. This abnormal accumulation eventually
interferes with the cell's ability to function.
Most clinical signs of Fucosidosis are due to abnormal storage in the cells
of the peripheral and central nervous system. Some organs tolerate the accumulation
of macromolecules relatively well, but the nervous system appears to be very
sensitive. Clinical signs include both behavioral changes and signs of motor
dysfunction that start at one to two years of age. Affected dogs exhibit bizarre
behavior patterns, may be aggressive or unusually depressed, and appear to forget
previously learned behaviors. An affected dog may resist restraint and appear
unsteady on its feet. The dog may also appear blind and deaf and may suffer from
gastrointestinal disorders such as dysphagia, regurgitation, and diarrhea. Unlike
PFK deficiency, this disease progresses rapidly, and death or euthanasia usually
occurs within a few weeks from the onset of clinical signs.
A DNA test for Fucosidosis
Breeds at risk
Breeding policy
Testing for Fucosidosis
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