Mucopolysaccharidosis VI (MPS6) – Miniature Pinscher
Code: H886
Short description
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
General information
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This specific form of the disease, Mucopolysaccharidosis VI (sometimes known as Maroteaux-Lamy Syndrome) is caused by a recessive mutation to the gene ARSB. The variant analysed in this test occurs in the Miniature Pinscher. Other related variants of MPS VI are known to occur in the Great Dane, Miniature Poodle and Miniature Schnauzer.
Specifications
| Breeds | |
|---|---|
| Gene | ARSB |
| Chromosome | 3 |
| Mutation | c.910G>A |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS VI |
Clinical features
Affected puppies present stunted growth (sometimes to the point of disproportionate dwarfism) in the first months of life, difficulty walking, limb stiffness and general failure to thrive. The disease may progress to cause difficulty breathing, and affected dogs are often euthanized on humane grounds.
References
Pubmed ID: 32985704
Year published: 2020
Omia ID: 666
Omia variant ID:
Turnaround information
- 15 working days