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Case Report

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

Marlies Böhm, Howard Henderson, Henriette van der Zwan, Sandra Basson

Journal of the South African Veterinary Association; Vol 85, No 1 (2014), 5 pages. doi: 10.4102/jsava.v85i1.1042

Submitted: 20 April 2013
Published:  13 May 2014

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.

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Author affiliations

Marlies Böhm, King Edward Veterinary Referral Hospital, South Africa
Howard Henderson, UCT/NHLS Department of Chemical Pathology, South Africa
Henriette van der Zwan, Inqaba biotechnical industries (Pty) Ltd., South Africa
Sandra Basson, Drs Visser, Erasmus, Vawda & Partners, Port Elizabeth, South Africa

Keywords

L-2 hydroxyglutaric aciduria; metabolic encephalopathy; Staffordshire Bull Terrier; urine gas chromatography-mass spectrometry; PCR

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Cited-By

1. Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner?
Marlies Bohm
Veterinary Record  vol: 179  issue: 21  first page: 543  year: 2016  
doi: 10.1136/vr.i6346

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ISSN: 1019-9128 (print) | ISSN: 2224-9435 (online)

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