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Mucopolysaccharidosis IIIB (Schipperke Type)

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Test Overview:

Mucopolysaccharidosis IIIB is an inherited Lysosomal Storage Disorder. Affected dogs have insufficient activity of the Enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present with neurologic deterioration around 2 years of age. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIB is primarily a progressive neurologic disease with more limited involvement of the joints and organs. Symptoms can include Ataxia and loss of reflexes more severely affecting the hind limbs, head tremors, swaying, and abnormal eye movement. Although disease progression is slow, affected dogs are often euthanised within a few years of diagnosis.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

NAGLU

Variant Detected:

chr9:20281734-20281735 (canFam4): -/40-70bpT+GGAAGGCATTC

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 of the NAGLU gene will reliably determine if a dog is a genetic carrier of mucopolysaccharidosis IIIB (Schipperke type).

Research Citation(s):

Raj K, Ellinwood NM, Giger U. An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Sci Rep. 2020 Feb 21;10(1):3170. doi: 10.1038/s41598-020-60121-3. [PubMed: 32081995]

Associated Breed(s):

Schipperke,

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