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Description

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: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: English Springer Spaniel

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

 

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