Other Names: Alpha Fucosidosis
Affected Genes: FUCA1
Inheritance: Autosomal Recessive

Add To Cart Search Tests

Common Symptoms

Fucosidosis is an inherited lysosomal storage disease affecting English springer spaniels. Affected dogs have a deficiency of the Enzyme alpha-L-fucosidase which is responsible for breaking down complex sugars during normal cellular metabolism. As a result, there is an accumulation of these compounds primarily in cells of the nervous system affecting the normal function of the brain and nervous system. Affected dogs typically present with symptoms between 11 months and 4 years of age. Symptoms include loss of balance, deafness, change in temperament, loss of learned skills, blindness, difficulty eating, and weight loss. Once an affected dog begins to show signs of the disease, dogs are usually euthanized within 18 months.

Breed-Specific Information for the English Springer Spaniel

The Mutation of the FUCA1 gene associated with fucosidosis has been identified in English springer spaniels, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the FUCA1 gene in English springer spaniels will reliably determine whether a dog is a genetic Carrier of fucosidosis. Fucosidosis is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have any features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the FUCA1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. English springer spaniels that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


  • Holmes NG, Acheson T, Ryder EJ, Binns MM. A PCR-based diagnostic test for fucosidosis in English Springer Spaniels. Vet J. 1998; 155: 113-114
  • Keller CB, Lamarre J. Inherited lysosomal storage disease in an English springer spaniel. J Am Vet Med Assoc. 1992 Jan 15; 200(2):194-5. [PubMed: 1559875]
  • Occhiodoro T, Anson DS. Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. Mamm Genome. 1996 Apr; 7(4):271-4. [PubMed: 8661697]
  • Skelly BJ, Sargan DR, Herrtage ME, Winchester BG. The molecular defect underlying canine fucosidosis. J Med Genet. 1996 Apr; 33(4):284-8. [PubMed: 8730282]
  • Skelly BJ, Sargan DR, Winchester BG, Smith MO, Herrtage ME, Giger U. Genomic screening for fucosidosis in English Springer Spaniels. Am J Vet Res. 1999 Jun; 60(6):726-9. [PubMed: 10376901]
  • Smith MO, Wenger DA, Hill SL, Matthews J. Fucosidosis in a family of American-bred English Springer Spaniels. J Am Vet Med Assoc. 1996 Dec 15; 209(12):2088-90. [PubMed: 8960193]