Canine Fucosidosis is an autosomal recessive
disorder found in English Springer Spaniels that affects the dog's
ability to produce the enzyme alpha-fucosidase. This enzyme deficiency
prohibits the normal break down and metabolism of complex polysaccharides
from within the cells. Instead, these compounds build up in the
cells, and diminish the cell's ability to function properly. Accumulation
of these compounds in the brain and nervous systems give rise to
the outward signs of the disease.
The disorder affects dogs between 18 months and
4 years of age. Clinically, the disease is characterized by a decrease
in central nervous system functions. Signs can include loss of learned
behavior, change in temperament, blindness, loss of balance, deafness,
and weight loss. From the onset of symptoms, the disease will progress
quickly and is fatal.
Because Fucosidosis is a recessive disorder,
the dog must have two copies of the defective gene, one from each
parent, to suffer from the disease. A dog that carries one copy
of the mutation does not exhibit any symptoms, however, they can
still pass on a copy of the mutation to any offspring. If two carries
dogs produce a litter of puppies, each pup has a 25% chance of being
affected by Fucosidosis.
Animal Genetics offers DNA testing and detection
of the gene mutation responsible for Fucosidosis in the English
Springer Spaniel breed.
US per sample.
Collect sample using buccal swabs provided by
Animal Genetics. Ensure that the dog has not eaten within a few
hours of sample collection. Any food particles can inhibit the test.
Rub each of the swabs along the inside of the dog's mouth for 10-15
seconds, and allow the swabs to dry thoroughly. Label the provided
envelope with the dog's name, and place the swab inside it. Download
and complete a submission form for each sample and send along with
payment to Animal Genetics for testing.
Results are given using the following symbolic
The dog carries two copies of the mutant gene and is homozygous
for Fucosidosis. The dog is affected by Canine Fucosidosis,
and will always pass on a copy of the mutation to any offspring.
Both the normal and mutant copies of the gene detected. The
dog is a carrier for Canine Fucosidosis, and can pass on a copy
of the mutated gene to any offspring.
Tested negative for the Fucosidosis mutation.