Mucopolysaccharidose Typ VI (MPS6)
Mucopolysaccharidosis type VI (MPS6)
General description
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder with varying degrees of severity. There is a mild form (m), whose symptoms can usually only be detected on the basis of certain laboratory values, a severe form (s), which in homozygous individuals is associated with severe disorders of bone structure, the nervous system, and dwarfism. The first signs of the severe type can be detected after just a few weeks of life.
Breeds
Balinese, Birman (Sacred cat of Burma), European Shorthair, Javanese, Oriental Shorthair (OSH), Peterbald, Ragdoll, Seychellois, Siamese, Thai, Tonkinese
Order details
| Test number | 8468 |
| Abbreviation | MPS6 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ARSB |
| Mutation | A-G, C-T |
| Literature | OMIA:000666-9685 |
Detailed description
Mucopolysaccharidosis Type VI is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). This deficiency is caused by two different variants in the 4S-gene, resulting in a clinically mild, a mixed and a severe MPS VI phenotype.
- In the mild form (genotype MPSVIm/MPSVIm) , the diagnosis can usually only be made on the basis of certain laboratory values.
- In the severe form (genotype MPSVIs/MPSVIs), animals affected by the hereditary disease may show significant disorders in bone structure (dwarfism) and in the nervous system.
- Animals with the mixed form (MPSVIm/MPSVIs) may exhibit degenerative joint diseases.
When planning breeding, care should therefore be taken to avoid offspring with the severe or mixed form by carefully selecting mating partners.
