{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:36:08Z","timestamp":1770219368962,"version":"3.49.0"},"reference-count":18,"publisher":"American Animal Hospital Association","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    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\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    gene was detected (c.1A&gt;G; p.Met1?), confirming the diagnosis of L2HGA at the DNA level. Canine L2HGA is caused by more than one mutation of\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    , as reported in humans.\n                  <\/jats:p>","DOI":"10.5326\/jaaha-ms-5967","type":"journal-article","created":{"date-parts":[[2012,7,28]],"date-time":"2012-07-28T20:52:47Z","timestamp":1343508767000},"page":"366-371","source":"Crossref","is-referenced-by-count":16,"title":["L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers"],"prefix":"10.5326","volume":"48","author":[{"given":"Daniel F.","family":"Sanchez-Masian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan","family":"Mascort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corlenis","family":"Jakobs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gajja","family":"Salomons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angeles","family":"Zamora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Casado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Recio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Lujan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3280","reference":[{"issue":"5","key":"bib1","series-title":"Vet Rec","first-page":"145","article-title":"L-2-hydroxyglutaric aciduria in a West Highland white terrier","volume":"156","author":"Garosi","year":"2005","unstructured":"Garosi\n              LS\n            , PenderisJ, McConnellJF. 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