title: L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
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.
authors: Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain. danimasian@yahoo.es
authors: Daniel F
authors: DF
authors: Sanchez-Masian
authors: Rafael
authors: R
authors: Artuch
authors: Joan
authors: J
authors: Mascort
authors: Corlenis
authors: C
authors: Jakobs
authors: Gajja
authors: G
authors: Salomons
authors: Angeles
authors: A
authors: Zamora
authors: Mercedes
authors: M
authors: Casado
authors: Matilde
authors: M
authors: Fernandez
authors: Alfredo
authors: A
authors: Recio
authors: Alejandro
authors: A
authors: Lujan
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000818:Animals; D000831:Animals, Newborn; D000927:Anticonvulsants / Q000627:therapeutic use; D001259:Ataxia / Q000151:congenital / Q000175:diagnosis / Q000662:veterinary; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D004283:Dog Diseases / Q000151:congenital* / Q000175:diagnosis; D004285:Dogs; D005260:Female; D010634:Phenobarbital / Q000627:therapeutic use; D012640:Seizures / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy / Q000662:veterinary
chemical_list: D000927:Anticonvulsants; D000429:Alcohol Oxidoreductases; C023858:2-hydroxyglutarate dehydrogenase; D010634:Phenobarbital