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Mucopolysaccharidosis Type I Overview

Mucopolysaccharidosis Type I
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells

Gene: IDUA

Variant Detected: c.155+1G>A

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: Mucopolysaccharidosis Type I is classified as a lysosomal storage disease. Symptoms include tremor, difficulty balancing and walking, head tilts, falling, generalided balance problems, growth retardation, corneal clouding leading to visual impairment, and lameness. The disease is progressive. Age of onset varies, but normally early adulthood. The clinical signs in the dogs have been reported to appear between 2-4 years of age.

Research Citation(s): Menon, K.P., Tieu, P.T., Neufeld, E.F. : Architecture of the Canine IDUA Gene and Mutation Underlying Canine Mucopolysaccharidosis-I Genomics 14:763-768, 1992. Pubmed reference: 1339393

Associated Breed(s): Domestic Short Hair,  Domestic Medium / Long Hair,