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Breeds Serviced

  • English Springer Spaniel

Fucosidosis

Fucosidosis is an autosomal-recessive genetic lysosomal storage disease of the English Springer Spaniel dog that is progressive and invariably fatal. The disease is due to a mutation in the gene that codes for the enzyme alpha-fucosidase. This defect impairs the breakdown of complex molecules resulting in abnormal accumulation of this macromolecules in the cells of the peripheral and central nervous system.

The disorder affects dogs between 18 months and 4 years of age. Clinically, the disease is characterised by a decrease in central nervous system functions. Signs can include loss of learned behavior, change in temperament, blindness, loss of balance, deafness and weight loss.