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Mucopolysaccharidosis Type VI (Siamese Type)

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Test Overview:

Mucopolysaccharidosis Type VI is a lysosome storage disorder. It is characterised by the accumulation of mucopolysaccharides. This accumulation results in the organ and cellular dysfunction. This disease is a result of the N-acetylgalactosamine 4-sulphate enzyme deficiency. Disease signs can include facial dysmorphia, growth retardation, decreased flexibility of cervical and lumbar spine and skeletal deformities.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

ARSB

Variant Detected:

c.1427T>C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Mucopolysaccharidosis Type VI.

Research Citation(s):

Yogalingam, G., Litjens, T., Bielicki, J., Crawley, A.C., Muller, V., Anson, D.S., Hopwood, J.J. : Feline mucopolysaccharidosis type VI - characterization of recombinant n-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease Journal of Biological Chemistry 271:27259-27265, 1996. Pubmed reference: 8910299.

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