Fucosidosis

LABOKLIN Service ID: 8016

Fucosidosis is a lysosomal storage disorder caused by deficiency of the enzyme α-L-fucosidase. In healthy animals, this enzyme cleaves complex proteins and lipids so that they can be metabolised. A diseased animal lacks this enzyme whereby the complex proteins and lipids are stored in diverse organs; for example in lymph nodes, pancreas, liver, kidneys, lungs and bone marrow and especially in cerebral and neural tissue. The disease in the Springer Spaniel manifests as a mainly neurological syndrome with mixed motor and mental function deficits. Affected animals show a disturbed coordination of movements, behavioural abnormalities, blindness, deafness and problems in deglutition. The disease occurs between the age of 18 months and 4 years with a progressive course and finally lethal outgoing.

Method	sequencing
Breed list	English Springer Spaniel
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab