Mucopolysaccharidose Typ VII (MPS7)
Mucopolysaccharidosis type VII (MPS7)
General description
Cats affected by Mucopolysaccharidosis Type VII show growth retardation, corneal clouding, dental eruption and multiple skeletal abnormalities. First anatomically abnormalities are seen at the age of about two month
Order details
| Test number | 8473 |
| Abbreviation | MPS7 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GUSB |
| Mutation | G-A |
| Literature | OMIA:000667-9685 |
Detailed description
Mucopolysaccharidosis Type VII is a lysosomal storage disease caused by ß-glucuronidase deficiency. Affected cats show growth retardation, corneal clouding, dental eruption and multiple skeletal abnormalities. First anatomically abnormalities are seen at the age of about two month.
