Alpha-Mannosidose (AMD)
Alpha-Mannosidosis (AMD)
General description
Symptoms of a-mannosidosis include malformation in bone structure and severe neurological symptoms such as ataxia, tremor and limited vision. Affected cats usually die after birth or in the first months of life.
Breeds
Persian
Order details
| Test number | 8239 |
| Abbreviation | AMD |
| 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 |
| Causality | causally |
| Gene | MAN2B1 |
| Mutation | DEL |
| Literature | OMIA:000625-9685 |
Detailed description
Alpha-mannosidosis is a lysosomal storage disease that is caused by the deficiency of lysosomal Alpha-mannosidase. Symptoms include malformation in bone structure and severe neurological symptoms such as ataxia, tremor and limited vision. Affected cats usually die after birth or in the first months of life.
