Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia |
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| Authors: | R.D. Jolly F.J. Allan M.G. Collett T. Rozaklis V.J. Muller J.J. Hopwood |
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| Affiliation: | 1. Institute of Veterinary, Animal and Biomedical Sciences, Massey University , Palmerston North, New Zealand E-mail: R.D.Jolly@massey.ac.nz;2. Lysosomal Diseases Research Unit, Women's and Children's Hospital , North Adelaide, Australia |
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| Abstract: | ![]()
Aim: To investigate the nature of a progressive ataxia in a New Zealand Huntaway dog. Methods: The affected dog was examined clinically before being humanely killed and necropsied. Selected tissues were submitted to light and electron microscopy and to biochemical analyses. Results: The histological lesions were interpreted as indicative of one of the forms of mucopolysaccharidosis type-III (dMPS-III), a lysosomal storage disease. Biochemically there was a deficiency of heparan sulphamidase. All the heparan sulphate chains had non-reducing-end glucosamine-N-sulphate residues. Conclusion: The disease is dMPS-IIIA (Sanfilippo syndrome). An autosomal recessive mode of inheritance can be provisionally assumed from the nature of this disease in other species. |
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| Keywords: | Mucopolysaccharidosis IIIA Sanfilippo syndrome animal model heparan sulphamidase heparan sulphate |
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