Mucopolysaccharidosis I (MPS1) – Cat
Kodas: K386
Short description
Mucopolysaccharidosis (MPS I) is a lysosomal storage disease characterised by intracellular accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfates.
General information
Mucopolysaccharidosis (MPS I) is a lysosomal storage disease characterised by intracellular accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfates.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | IDUA |
| Chromosome | B1 |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS I |
Clinical features
Affected cats have flat, broad faces, large heads, small ears, thick skin over the dorsal neck, wide cervical vertebrae, and hip subluxation. Other signs include abnormal gait, corneal clouding and some have a cardiac murmur of mitral insufficiency.
Additional information
There are three types of mucopolysaccharidosis in cats: MPS I, MPS VI and MPS VII.
References
Pubmed ID: 10356309
Year published: 1999
Omia ID: 664
Omia variant ID:
Turnaround information
- 10 working days