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K651

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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 is found in domestic shorthairs, and in the Siamese breed. A closely related variant 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

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