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Abstract

The clinical signs associated with L-2-hydroxyglutaric aciduria are discussed. The diagnosis, treatment and prognosis of this autosomal recessive disease are presented. Focus is given its occurrence in dogs.

Author(s)
Theobald, A.
Publisher
Veterinary Business Development Ltd, Peterborough, UK
Citation
Veterinary Times, 2011, 41, 44, pp 22-23
Abstract

L-2-hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disorder that produces a variety of clinical neurological deficits, including psychomotor retardation, seizures and ataxia. The biochemical hallmark of L-2-HGA is the accumulation of L-2-hydroxyglutaric acid (L-2-HG) in cerebrospinal fluid, ...

Author(s)
Penderis, J.; Calvin, J.; Abramson, C.; Jakobs, C.; Pettitt, L.; Binns, M. M.; Verhoeven, N. M.; O'Driscoll, E.; Platt, S. R.; Mellersh, C. S.
Publisher
BMJ Publishing Group, London, UK
Citation
Journal of Medical Genetics, 2007, 44, 5, pp 334-340
Abstract

Background: L-2-hydroxyglutaric aciduria is a metabolic repair deficiency characterized by elevated levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Neurological signs associated with the disease in humans and dogs include seizures, ataxia and dementia. Case presentation...

Author(s)
Farias, F. H. G.; Zeng, R.; Johnson, G. S.; Shelton, G. D.; Paquette, D.; O'Brien, D. P.
Publisher
BioMed Central Ltd, London, UK
Citation
BMC Veterinary Research, 2012, 8, 124, pp (26 July 2012)
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...

Author(s)
Shea, A.; Risio, L. de; Carruthers, H.; Ekiri, A.; Beltran, E.
Publisher
BMJ Publishing Group, London, UK
Citation
Veterinary Record, 2016, 179, 21, pp 545
AbstractFull Text

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...

Author(s)
Böhm, M.; Henderson, H.; Zwan, H. van der; Basson, S.
Publisher
AOSIS OpenJournals, Tygervalley, South Africa
Citation
Journal of the South African Veterinary Association, 2014, 85, 1, pp Art. #1042
Abstract

Two female Yorkshire terrier puppies were presented with generalized tonic-clonic seizures and ataxia. MRI revealed bilaterally symmetrical, diffuse regions of gray matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences. Urinary organic acids were quantified by gas...

Author(s)
Sanchez-Masian, D. F.; Artuch, R.; Mascort, J.; Jakobs, C.; Salomons, G.; Zamora, A.; Casado, M.; Fernandez, M.; Recio, A.; Lujan, A.
Publisher
American Animal Hospital Association, Denver, USA
Citation
Journal of the American Animal Hospital Association, 2012, 48, 5, pp 366-371
Abstract

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a hereditary neurometabolic disorder reported in human beings and dogs. An 11-month-old Staffordshire bull terrier was suspected to have the disease, on the basis of clinical signs and magnetic resonance imaging findings. L-2-HGA was confirmed by urinary...

Author(s)
Scurrell, E.; Davies, E.; Baines, E.; Cherubini, G. B.; Platt, S.; Blakemore, W.; Williams, A.; Schöniger, S.
Publisher
Elsevier, Amsterdam, Netherlands
Citation
Journal of Comparative Pathology, 2008, 138, 2/3, pp 160-164
Abstract

L-2-Hydroxyglutaric aciduria is an inborn error of metabolism, which has been recognized in humans since 1980. The metabolic defect responsible for the disease is unknown, but the disorder can be diagnosed in humans by elevations of the organic acid, L-2-hydroxyglutaric acid in the cerebrospinal...

Author(s)
Abramson, C. J.; Platt, S. R.; Jakobs, C.; Verhoeven, N. M.; Dennis, R.; Garosi, L.; Shelton, G. D.
Publisher
American College of Veterinary Internal Medicine, Lakewood, USA
Citation
Journal of Veterinary Internal Medicine, 2003, 17, 4, pp 551-556
Abstract

Author(s)
Bohm, M.
Publisher
BMJ Publishing Group, London, UK
Citation
Veterinary Record, 2016, 179, 21, pp 543-544
Abstract

This correspondence presents the pathology, clinical signs, diagnosis, screening and drug therapy for the control of clinical signs of L-2-hydroxyglutaric aciduria in Staffordshire bull terriers.

Author(s)
Abramson, C.; Platt, S.; Garosi, L.; Penderis, J.
Publisher
British Veterinary Association, London, UK
Citation
Veterinary Record, 2003, 153, 3, pp 95-96

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