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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 | |
| Organ | |
| specimen | Écouvillon, EDTA sanguin, Héparine sanguine, Sperme, Tissu |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. A variant of the disease, Mucopolysaccharidosis type VI (MPS VI), is caused by a recessive mutation to the gene ARSB. The specific variant analysed in this test (L476P) is found in domestic shorthairs and in the Siamese breed. A closely related variant (D520N) has also been observed specifically in the Siamese.
Caractéristiques cliniques
Affected cats begin showing abnormal skeletal development as early as 3 to 6 weeks of age. Abnormalities can include a small head, a broad and flattened upper jaw, a stiff spine and joints, possibly leading to an awkward and crouched gait. Degeneration of the retinas, leading to decreased vision, may also occur.
Additional Information
Références
Pubmed ID: 8910299
Omia ID: 666