L-2-hydroxyglutaric aciduria in two female Yorkshire terriers

J Am Anim Hosp Assoc. 2012 Sep-Oct;48(5):366-71. doi: 10.5326/JAAHA-MS-5967. Epub 2012 Jul 27.

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 chromatography-mass spectroscopy and were consistent with a diagnosis of L-2-hydroxyglutaric aciduria (L2HGA). The L2HGDH gene encodes for the enzyme L-2-hydroxyglutarate dehydrogenase, which helps break down L-2-hydroxyglutaric acid. In both puppies described in this report, a homozygous mutation at the translation initiation codon of the homolog canine L2HGDH gene was detected (c.1A>G; p.Met1?), confirming the diagnosis of L2HGA at the DNA level. Canine L2HGA is caused by more than one mutation of L2HGDH, as reported in humans.

Publication types

  • Case Reports

MeSH terms

  • Alcohol Oxidoreductases / genetics*
  • Animals
  • Animals, Newborn
  • Anticonvulsants / therapeutic use
  • Ataxia / congenital
  • Ataxia / diagnosis
  • Ataxia / veterinary
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / veterinary*
  • Dog Diseases / congenital*
  • Dog Diseases / diagnosis
  • Dogs
  • Female
  • Phenobarbital / therapeutic use
  • Seizures / congenital
  • Seizures / diagnosis
  • Seizures / drug therapy
  • Seizures / veterinary

Substances

  • Anticonvulsants
  • Alcohol Oxidoreductases
  • 2-hydroxyglutarate dehydrogenase
  • Phenobarbital

Supplementary concepts

  • 2-Hydroxyglutaricaciduria