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Bovine mucopolysaccharidosis type IIIB

Karageorgos, L. and Hill, B. and Bawden, M.J. and Hopwood, J.J. (2007) Bovine mucopolysaccharidosis type IIIB. Journal of Inherited Metabolic Disease, 30 (3). pp. 358-364.

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Article Link(s): http://dx.doi.org/10.1007/s10545-007-0539-5

Publisher URL: http://www.springerlink.com

Abstract

Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.

Item Type:Article
Corporate Creators:Biosecurity Queensland
Additional Information:© SSIEM. © Springer.
Keywords:Mucopolysaccharidosis IIIB; autosomal recessive lysosomal storage disorder; heparan sulphate; α-N-acetylglucosaminidase (NAGLU) gene; cattle.
Subjects:Science > Biology > Reproduction
Animal culture > Cattle
Science > Biology > Genetics
Veterinary medicine
Deposited On:05 Feb 2009 04:53
Last Modified:15 Jun 2011 23:41

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