L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier

 

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dc.contributor.author Böhm, Marlies
dc.contributor.author Henderson, Howard
dc.contributor.author van der Zwan, Henriette
dc.contributor.author Basson, Sandra
dc.date.accessioned 2018-11-20T10:46:22Z
dc.date.available 2018-11-20T10:46:22Z
dc.date.issued 2014
dc.identifier http://dx.doi.org/10.4102/jsava. v85i1.1042
dc.identifier.citation Bóhm, M., Henderson, H., van der Zwan, H., & Basson, S. (2014). L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. Journal of the South African Veterinary Association, 85(1), 01-05.
dc.identifier.uri http://hdl.handle.net/11427/29070
dc.description.abstract L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia. Some affected dogs show only subtle behavioural changes. Amongst canines, the condition has been best described in Staffordshire Bull Terriers. Although this is the first reported case in South Africa, at least three other affected dogs have been indentified by polmerase chain reaction (PCR) in this country. Affected dogs have normal haematology, serum biochemistry and routine urine analysis. This report discusses the advantages and limitations of the three main diagnostic modalities, namely: magnetic resonance imaging, urine gas chromatography-mass spectrometry and genetic testing. The aim of this report is to increase awareness of the condition, assist diagnosis in encephalopathic dogs and improve detection of carriers amongst breeding stock.
dc.language.iso eng
dc.source Journal of the South African Veterinary Association
dc.source.uri https://jsava.co.za/index.php/jsava
dc.subject.other Staffordshire Bull Terriers (SBT)
dc.subject.other L-2 hydroxyglutaric aciduria (L2-HGAU)
dc.title L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier
dc.type Journal Article
dc.date.updated 2018-11-20T10:44:52Z
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences
dc.publisher.department Department of Clinical Laboratory Sciences
uct.type.filetype Text
uct.type.filetype Image
dc.identifier.apacitation Böhm, M., Henderson, H., van der Zwan, H., & Basson, S. (2014). L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. <i>Journal of the South African Veterinary Association</i>, http://hdl.handle.net/11427/29070 en_ZA
dc.identifier.chicagocitation Böhm, Marlies, Howard Henderson, Henriette van der Zwan, and Sandra Basson "L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier." <i>Journal of the South African Veterinary Association</i> (2014) http://hdl.handle.net/11427/29070 en_ZA
dc.identifier.vancouvercitation Böhm M, Henderson H, van der Zwan H, Basson S. L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. Journal of the South African Veterinary Association. 2014; http://hdl.handle.net/11427/29070. en_ZA
dc.identifier.ris TY - AU - Böhm, Marlies AU - Henderson, Howard AU - van der Zwan, Henriette AU - Basson, Sandra AB - L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia. Some affected dogs show only subtle behavioural changes. Amongst canines, the condition has been best described in Staffordshire Bull Terriers. Although this is the first reported case in South Africa, at least three other affected dogs have been indentified by polmerase chain reaction (PCR) in this country. Affected dogs have normal haematology, serum biochemistry and routine urine analysis. This report discusses the advantages and limitations of the three main diagnostic modalities, namely: magnetic resonance imaging, urine gas chromatography-mass spectrometry and genetic testing. The aim of this report is to increase awareness of the condition, assist diagnosis in encephalopathic dogs and improve detection of carriers amongst breeding stock. DA - 2014 DB - OpenUCT DP - University of Cape Town J1 - Journal of the South African Veterinary Association LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier TI - L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier UR - http://hdl.handle.net/11427/29070 ER - en_ZA


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