Mucopolysaccharidosis IIIB
Breed: Samoyed
General
Disease Name
Mucopolysaccharidosis IIIB
OMIA
1342
Gene Name
NAGLU
Gene Name 2
Chr. 9
Mutation
g.20407670_20407671ins[A[(40_70)];20407660_20407670]
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis IIIB 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. 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 IIIB 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. 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
Ellinwood, N.M., Henthorn, P.S., Giger, U., Haskins, M.E. : Mucopolysaccharidosis type IIIB: Identification of the causative mutation in the canine model American Society of Human Genetics, 2003 conference :abstract 1635, 2003.
Published 2
Ellinwood, NM., Wang, P., Skeen, T., Sharp, NJ., Cesta, M., Decker, S., Edwards, NJ., Bublot, I., Thompson, JN., Bush, W., Hardam, E., Haskins, ME., Giger, U. : A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26:489-504, 2003. Pubmed reference: 14518829.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Schipperke