Mucopolysaccharidosis type VII (MPS VII) is an autosomal recessive disorder of lysosomal buildup, caused by the lack of the lysosomal enzyme acid hydrolase beta-glucuronidase. It is characterized by accumulation of undegraded glycosaminoglycans (dermatan, heparan, and chondroitin sulfates) in lysosomes. The progressive clinical signs of affected dogs occur at around 4 weeks of age and include facial dysmorphia, diffuse corneal clouding, appendicular and axial skeletal lesions and glycosaminoglycans in urine.

Inheritance: autosomal recessive - read more

Mutation: GUSB 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.