Description: Fucosidosis is a hereditary metabolic disorder caused by a deficiency of the α-L-fucosidase enzyme. α-L-fucosidase cleaves out L-fucosyl residue from glycoconjugates. If α-L-fucosidase does not work well, glycoconjugates are deposited in different organs, like liver, kidney, heart. It is a neurological disease, main symptoms are blindness, deafness, behavior and motoric disorders, vomiting, deglutition problems. Disease manifestation starts between 18 months and 4 years.
Inheritance: autosomal recessive
Mutation: c.379_392del14 in FUCA1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: English Springer Spaniels
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