Mucopolysaccharidosis VII (MPS VII) in Brazilian Terrier is a part of a larger group of hereditary lysosomal storage diseases characterized by skeletal deformities, which arise due to deficiencies of lysosomal enzymes involved in the degradation of glycosaminoglycan (GAG) chains of the proteoglycans. Affected puppies are unable to walk and function properly. They present phenotypic characteristics like brachycephalic craniofacial morphology, dwarfism and deformed legs with crooked radiocarpal joints and prominent joint hyperlaxity especially in the hind limbs. Affected puppies show severe growth retardation. Clinical signs become evident within the first four weeks of life.
Inheritance: autosomal recessive - read more
Mutation: GUSB gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: Brazilian Terrier
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.