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Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers
  1. A. Shea, BVSc DipECVN MRCVS1,
  2. L. De Risio, DVM PhD DipECVN MRCVS1,
  3. H. Carruthers, BVMS MBA MRCVS2,
  4. A. Ekiri, BVM MS PhD DipACVPM3 and
  5. E. Beltran, Ldo Vet DipECVN MRCVS4
  1. 1Neurology/Neurosurgery Service, Centre for Small Animal Studies, The Animal Health Trust, Newmarket, UK
  2. 2Tay Valley Veterinary Centre, Perth, Scotland
  3. 3One Health Institute, School of Veterinary Medicine, University of California, Davis, California, USA
  4. 4Neurology/Neurosurgery Service, Queen Mother Hospital for Animals, Royal Veterinary College, Potter's Bar, UK
  1. E-mail for correspondence: anita.shea{at}aht.org.uk

Abstract

To describe the development of clinical signs (CS) and outcome of L-2-hydroxyglutaric aciduria (L-2-HGA), owners of 119 Staffordshire bull terriers positive for the known L-2-hydroxyglutarate dehydrogenase autosomal-recessive mutations were requested to complete a questionnaire regarding their pet's CS. Questionnaires were returned for 27 dogs, all with neurological abnormalities—not all questions were answered in all cases. The mean age of CS onset was 12 months (range 2.5–60). Gait dysfunction was reported in 26/26 dogs, with stiffness of all four limbs the most common (24/26) and earliest recognised abnormality. Kyphosis (19/26), body and/or head tremors (19/26) and hypermetria (15/26) were frequent. Behavioural changes were present in 24/27 dogs; most commonly staring into space (21/24), signs of dementia (17/24) and loss of training (15/24). Eighteen dogs demonstrated paroxysmal seizure-like/dyskinetic episodes. Nineteen (70 per cent) dogs were alive at a mean survival time of 76.6 months (12–170) after onset of CS. L-2-HGA was the cause of euthanasia in six dogs. Euthanasia occurred at a mean survival time of 44 months (8.5–93) after onset of CS, with 2/8 dogs euthanased within 12 months. L-2-HGA is considered a progressive neurological disease; however, CS can be successfully managed with affected dogs potentially living a normal lifespan.

  • L-2-hydroxyglutaric aciduria
  • Metabolic diseases
  • Dogs
  • Neurology
  • Accepted August 22, 2016.

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