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

Authors

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

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.

Author Biographies

  • Marlies Böhm, King Edward Veterinary Referral Hospital

    King Edward Veterinary Referral Hospital, Port Elizabeth, South Africa

  • Howard Henderson, UCT/NHLS Department of Chemical Pathology

    UCT/NHLS Department of Chemical Pathology, South Africa

  • Henriette van der Zwan, Inqaba biotechnical industries (Pty) Ltd.

    Inqaba biotechnical industries (Pty) Ltd., South Africa

  • Sandra Basson, Drs Visser, Erasmus, Vawda & Partners

    Drs Visser, Erasmus, Vawda & Partners, Port Elizabeth, South Africa

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Published

2021-12-09

Issue

Section

Case Report