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

Description

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.

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Diseases

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

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Associated Breed(s):

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Labels:

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

Glucuronidase beta (GUSB) on Chromosome 6

Variant Detected:

Base Substitution c.498G>A p.Arg166His chr6:741429 (canFam3): G>A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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