Peer-reviewed veterinary case report
Seizures and unsteady walk in female Yorkshire terriers
By Sanchez-Masian, Daniel F et al.·Published in Journal of the American Animal Hospital Association·2012·Neurology Department, Spain·View original on PubMed →
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Original publication title: L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
- Species:
- dog
Plain-English summary
Two female Yorkshire terrier puppies were brought in for seizures and unsteady movements. An MRI showed changes in their brain, and tests of their urine confirmed a rare condition called L-2-hydroxyglutaric aciduria (L2HGA), which affects how their bodies process certain acids. Genetic testing revealed a mutation in a specific gene responsible for this condition. Unfortunately, there is no known cure for L2HGA, and treatment focuses on managing the symptoms.
People also search for: Yorkshire terrier seizures · puppy ataxia treatment · L-2-hydroxyglutaric aciduria in dogs
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22843824/