{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T06:39:58Z","timestamp":1757313598461,"version":"3.40.4"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-2 hydroxyglutaric acid in urine samples. We report on an 11-year-old patient who presented to the emergency department with a generalised status epilepticus, which was subsequently diagnosed as L-2 hydroxyglutaric aciduria owing to rare and different clinical presentation. Brain MRI showed peripheral white matter abnormalities in cerebral hemispheres, basal ganglia and dentate nuclei, In conclusion, L-2 hydroxyglutaric aciduria should be considered in cases of epileptic seizures such as status epilepticus, cerebellar signs and progressive neurological course.<\/jats:p>","DOI":"10.1136\/bcr-2013-010164","type":"journal-article","created":{"date-parts":[[2013,6,8]],"date-time":"2013-06-08T05:33:45Z","timestamp":1370669625000},"page":"bcr2013010164","source":"Crossref","is-referenced-by-count":4,"title":["L-2 Hydroxyglutaric aciduria presenting with status epilepticus"],"prefix":"10.1136","volume":"2013","author":[{"given":"Sedat","family":"I\u015fikay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,6,7]]},"reference":[{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.1","first-page":"1","article-title":"L-2-hydroxyglutaric aciduria: a report of 29 patients","volume":"2013","author":"Top\u00e7u","year":"2005","journal-title":"Turk J Pediatr"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.2","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.pediatrneurol.2012.01.008","article-title":"Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging","volume":"2013","author":"Mete","year":"2012","journal-title":"Pediatr Neurol"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.3","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1177\/088307389601100505","article-title":"Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease","volume":"2013","author":"Top\u00e7u","year":"1996","journal-title":"J Child Neurol"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.4","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0387-7604(01)00206-6","article-title":"L-2-Hydroxyglutaric aciduria presenting as status epilepticus","volume":"2013","author":"Zafeiriou","year":"2001","journal-title":"Brain Dev"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.5","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s100720070104","article-title":"Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria","volume":"2013","author":"Moroni","year":"2000","journal-title":"Neurol Sci"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1055\/s-2008-1081217","article-title":"L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings","volume":"2013","author":"Haliloglu","year":"2008","journal-title":"Neuropediatrics"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.7","doi-asserted-by":"crossref","first-page":"16849","DOI":"10.1073\/pnas.0404840101","article-title":"A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria","volume":"2013","author":"Rzem","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.8","doi-asserted-by":"crossref","first-page":"2803","DOI":"10.1093\/hmg\/ddh300","article-title":"L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1","volume":"2013","author":"Top\u00e7u","year":"2004","journal-title":"Hum Mol Genet"},{"key":"2025042708132335000_2013.jun07_1.bcr2013010164.9","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ejpn.2008.01.003","article-title":"Riboflavin treatment in a case with L-2-hydroxyglutaric aciduria","volume":"2013","author":"Yilmaz","year":"2009","journal-title":"Eur J Paediatr Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-010164","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:13:28Z","timestamp":1745766808000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-010164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,7]]},"references-count":9,"alternative-id":["10.1136\/bcr-2013-010164"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-010164","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,6,7]]}}}