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Bovine mucopolysaccharidosis type IIIB
Author(s) -
Karageorgos L.,
Hill B.,
Bawden M. J.,
Hopwood J. J.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0539-5
Subject(s) - missense mutation , mucopolysaccharidosis , mutation , ataxia , mucopolysaccharidosis type i , genetics , population , medicine , biology , gene , disease , environmental health , psychiatry , enzyme replacement therapy
Summary 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.