期刊
JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION
卷 48, 期 5, 页码 366-371出版社
AMER ANIMAL HOSPITAL ASSOC
DOI: 10.5326/JAAHA-MS-5967
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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. (J Am Anim Hosp Assoc 2012; 48:366-371. DOI 10.5326/JAAHA-MS-5967)
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