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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 | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| 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 two recessive mutation to the gene ARSB. The variants analyzed in this test are the mild form (MPSVIm; D520N), which is mostly found in the Siamese and a closely related severe variant (MPSVIs; L476P). This latter is has been observed in domestic shorthairs and also occurs in the Siamese breed.
Caractéristiques cliniques
In general, the mild form (MPSVIm; D520N) has been observed at a high frequency in certain cat breeds, such as the Siamese breed, but its presence alone does not appear to cause the typical symptoms associated with MPS VI. However, cats that have the severe form (MPSVIs; L476P) 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
Surveys from various labs suggest that the severe variant (L476P) is linked to disease and should be monitored in cat breeds, especially those with Siamese ancestry. However, there is no evidence linking the D520N variant to disease. This means that testing for it is only useful if the L476P genotype is also tested.
Références
Pubmed ID: 8910299 (1996); 9421472 (1998)
Omia ID: 666