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Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 3 |
| Mutation | c.910G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | MPS VI |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 32985704
Year published: 2020
Omia ID: 666
Omia variant ID: