Mukopolysaccharidose (MPS) Typ IIIa
Mucopolysaccharidosis type IIIa (MPS3a)
General description
Mucopolysaccharidosis type IIIa belongs to a group of storage diseases, which are caused by an impaired degradation of the glycosaminoglycan heparan sulfate. The excessive accumulation of this molecule leads to severe degeneration of the central nervous system. Symptoms starts around 18 months of age and characterised by neurologic deterioration including ataxia.
Breeds
Dachshund (Dackel), New Zealand Huntaway, Wire-Haired Dachshund
Detailed description
Mucopolysaccharidosis type IIIa belongs to a group of storage diseases, which are caused by an impaired degradation of the glycosaminoglycan heparan sulfate. The excessive accumulation of this molecule in the lysosomes is caused by the genetic deficiency of the enzyme heparan sulfate sulfamidase. Affected animals suffer from severe degeneration of the central nervous system. Symptoms starts around 18 months of age and characterised by neurologic deterioration including ataxia and often lead to death of the affected dogs.
Mucopolysaccharidosis type IIIa (MPS3a)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8306 |
| 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 |
| Inheritance | autosomal recessive |
| Age of onset | 18 months |
| Causality | causally |
| Gene | SGSH |
| Mutation | INS |
| Literature | OMIA:001309-9615 |
Mucopolysaccharidosis type IIIa (MPS3a)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8306 |
| 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 |
| Inheritance | autosomal recessive |
| Age of onset | 18 months |
| Causality | causally |
| Gene | SGSH |
| Mutation | DEL |
| Literature | OMIA:001309-9615 |
