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Mucopolysaccharidosis VII - Type II (German Shepherd/Belgian Shepherd Type) Overview

Mucopolysaccharidosis VII - Type II (German Shepherd/Belgian Shepherd Type)
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells

Gene: Glucuronidase beta (GUSB) on Chromosome 6

Variant Detected: Base Substitution c.498G>A p.Arg166His

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Clinical and laboratory findings included skeletal deformities, corneal cloudiness, cytoplasmic granules in the neutrophils and lymphocytes of blood and CSF and glycosaminoglycans in a urine sample (detected via a toluidine blue spot test). Enzyme activity and DNA analyses confirmed mucopolysaccharidosis type VII as a result of severe beta-glucuronidase deficiency.

Research Citation(s): Ray J, et al. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. (1998) Am J Vet Res 59;1092–1095.

Associated Breed(s): German Shepherd Dog,  Mixed Breed,  Belgian Groenendael Shepherd,  Belgian Lakenois Shepherd,  Belgian Malinois Shepherd,  Belgian Tervueren Shepherd ,