Fucosidosis
Fucosidosis
General description
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.
Breeds
English Springer Spaniel
Order details
| Test number | 8016 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 18 months - 4 years |
| Causality | causally |
| Gene | FUCA1 |
| Mutation | DEL |
| Literature | OMIA:000396-9615 |
Detailed description
Fucosidosis is a lysosomal storage disorder caused by the loss of a specific enzyme, α-L-fucosidase. In healthy organisms, this enzyme breaks down complex compounds so that the body can utilise these substances. In affected animals, the enzyme is missing, causing the complex compounds to accumulate in various organs. In addition to the lymph nodes, pancreas, liver, kidneys, lungs and bone marrow, the brain and nerve tissue are particularly affected, causing the severe neurological symptoms of this disease.
Fucosidosis in the Springer Spaniel manifests as mainly neurological syndrome with is characterised by movement disorders and neurological deficits. Affected animals show impaired coordination of movement, behavioural abnormalities, blindness, deafness and swallowing disorders. The disease manifests itself at around 18 months to 4 years of age, with a steadily progressive course and ultimately fatal outcome.
