{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:32:43Z","timestamp":1777329163151,"version":"3.51.4"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magnetic resonance imaging (MRI). A 7-year-old male patient of Turkish origin was admitted to the hospital because of hand tremors. Physical examination revealed macrocephaly, intention tremors, walking disability and ataxic gait. Urine organic acid analysis showed increased excretion of L-2-hydroxyglutaric acid (L2HG acid). Analysis of the\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    gene revealed a novel homozygous c.368A&gt;G, p. (Tyr123Cys) mutation. L-2-hydroxyglutaric aciduria is a cerebral organic aciduria that may lead to various neurological complications. Early recognition of symptoms of L2HGA is important for initiation of supportive therapy that may slow down the progression of the disease.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0015","type":"journal-article","created":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T04:04:25Z","timestamp":1576987465000},"page":"93-96","source":"Crossref","is-referenced-by-count":7,"title":["A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria"],"prefix":"10.2478","volume":"22","author":[{"given":"A","family":"Olgac","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Gazi University Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orgun L","family":"Tekin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Gazi University Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FS","family":"Ezg\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Gazi University Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Bibero\u01e7lu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Gazi University Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Gazi University Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,21]]},"reference":[{"key":"2026042716341690833_j_bjmg-2019-0015_ref_001","doi-asserted-by":"crossref","unstructured":"Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012; 35(4): 571-587.","DOI":"10.1007\/s10545-012-9462-5"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_002","doi-asserted-by":"crossref","unstructured":"Ma S, Sun R, Jiang B, Gao J, Deng W, Liu P, et al. L2hgdh deficiency accumulates l-2-hydroxyglutarate with progressive leukoencephalopathy and neurode-generation. Mol Cell Biol. 2017; 37(8). pii: e00492-16. doi: 10.1128\/ MCB. 00492-16.","DOI":"10.1128\/MCB.00492-16"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_003","doi-asserted-by":"crossref","unstructured":"Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolom\u00e9 MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2H-GDH) variants: A genotype-phenotype study. Hum Mutat. 2010; 31(4): 380-390.","DOI":"10.1002\/humu.21197"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_004","doi-asserted-by":"crossref","unstructured":"Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi MS, et al. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med. 2014; 34(2): 107-114.","DOI":"10.5144\/0256-4947.2014.107"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_005","doi-asserted-by":"crossref","unstructured":"Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, et al. L-2-hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 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Neurology. 2004; 62(10): 1882-1884.","DOI":"10.1212\/01.WNL.0000125335.21381.87"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_009","doi-asserted-by":"crossref","unstructured":"Patay Z, Mills JC, L\u00f6bel U, Lambert A, Sablauer A, Ellison DW. Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. AJNR Am J Neuroradiol. 2012; 33(5): 940-943.","DOI":"10.3174\/ajnr.A2869"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_010","doi-asserted-by":"crossref","unstructured":"Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2H-GDH gene: Neuroimaging findings. Neuropediatrics. 2008; 39(2): 119-122.","DOI":"10.1055\/s-2008-1081217"},{"key":"2026042716341690833_j_bjmg-2019-0015_ref_011","doi-asserted-by":"crossref","unstructured":"Shim EH, Sudarshan S. Another small molecule in the oncometabolite mix: L-2-hydroxyglutarate in kidney cancer. Oncoscience. 2015; 2(5): 483-486. eCollection 2015.","DOI":"10.18632\/oncoscience.165"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/bjmg\/22\/2\/article-p93.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2019-0015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:36:30Z","timestamp":1777325790000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2019-0015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,1]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,12,21]]},"published-print":{"date-parts":[[2019,12,21]]}},"alternative-id":["10.2478\/bjmg-2019-0015"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2019-0015","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,1]]}}}