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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.295C>T |
| 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 variant of the disease, known as Mucopolysaccharidosis Type VI (MPS VI), is caused by a recessive mutation to the gene ARSB, and is found in the Great Dane. Related variants also occur in the Miniature Poodle, Miniature Schnauzer and Miniature Pinscher.
Caractéristiques cliniques
Affected dogs present stunted growth around 4 months of age, splayed limbs, crooked/bowing leg bones, progressive muscle weakness and noisy breathing. The disease is progressive, and euthanasia may be necessary due to poor quality of life.
Additional Information
Références
Pubmed ID: 29157190
Year published: 2018
Omia ID: 666
Omia variant ID: 859