Mucopolysaccharidosis type IIIb (MPS 3b)

Mucopolysaccharidosis IIIb or Sanfilippo syndrome type B is a progressive autosomal recessive hereditary disease known in Schipperke Dogs. It is a lysosomal storage disorder characterized by deficient activity of enzyme alpha-N-acetylglucosaminidase, that causes accumulation of specific glycosaminoglycans in lysosomes. The disease symptoms show at around two years of age. Clinical signs are consistent with cerebellar disease and include tremors, episodes of stumbling, dysmetria, hind limb ataxia and a wide-based stance with truncal swaying. Mildly dystrophic corneas and small peripheral foci of retinal degeneration can also be observed. The disease progresses over time which leads to euthanasia before six years of age.

Inheritance: autosomal recessive - read more

Mutation: NAGLU gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

New

Price:

52.00 €

  • You can order free sampling kit.
  • Only one sample is required for each animal, even if you order several tests.
  • Samples are stored for the option to order additional tests.
  • We offer expert assistance in interpreting the results.
Suitable for breeds
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