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

dc.contributor.authorBöhm, Marlies
dc.contributor.authorHenderson, Howard
dc.contributor.authorvan der Zwan, Henriette
dc.contributor.authorBasson, Sandra
dc.date.accessioned2018-11-20T10:46:22Z
dc.date.available2018-11-20T10:46:22Z
dc.date.issued2014
dc.date.updated2018-11-20T10:44:52Z
dc.description.abstractL-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.identifierhttp://dx.doi.org/10.4102/jsava. v85i1.1042
dc.identifier.apacitationBöhm, 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/11427/29070en_ZA
dc.identifier.chicagocitationBöhm, 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/11427/29070en_ZA
dc.identifier.citationBóhm, 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.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
dc.identifier.urihttp://hdl.handle.net/11427/29070
dc.identifier.vancouvercitationBöhm 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.language.isoeng
dc.publisher.departmentDepartment of Clinical Laboratory Sciences
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.sourceJournal of the South African Veterinary Association
dc.source.urihttps://jsava.co.za/index.php/jsava
dc.subject.otherStaffordshire Bull Terriers (SBT)
dc.subject.otherL-2 hydroxyglutaric aciduria (L2-HGAU)
dc.titleL-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier
dc.typeJournal Article
uct.type.filetypeText
uct.type.filetypeImage
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