Fucosidosis is an inherited lysosomal storage disorder caused by a deficiency of the α-L-fucosidase enzyme. This enzyme is responsible for the removal of fucose sub-units from glycoconjugates. Affected dogs will have impaired central nervous system function, which can manifest as mental and motor deterioration, growth retardation and an increased inclination to recurrent infections. First significant symptoms usually manifest at approximately 12-17 months and severe decline in neurological function set in between 18-23 months of age.
Inheritance: autosomal recessive - read more
Mutation: FUCA1 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.