Mucopolysaccharidosis Type I
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Mucopolysaccharidosis Type I
OMIA
664
Gene Name
IDUA
Gene Name 2
GUSB
Mutation
c.155+1G>A
Mutation 2
c.866C>T
Mutation 3
c.559G>A
Mutation 4
c.155+1G>A
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type I is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized 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. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Details 2
Mucopolysaccharidosis Type I is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized 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. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Published
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
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR