{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T03:41:51Z","timestamp":1776224511634,"version":"3.50.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T00:00:00Z","timestamp":1747440000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T00:00:00Z","timestamp":1747440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    L-2-hydroxyglutaric aciduria (L-2-HGA, #236,792) is an autosomal recessive neurodegenerative disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (FAD)-dependent enzyme, due to biallelic pathogenic variants in the\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    gene. The present study described the patient with L2HGA presenting with a slight psychomotor delay, epilepsy from 5\u00a0years of age, non-progressive cerebellar ataxia, and mild to moderate intellectual disability during 10\u00a0years of follow-up. Two different heterozygous variants in the\n                    <jats:italic>L2HGDH<\/jats:italic>\n                    gene were identified in the patient: a known substitution c.829C\u2009&gt;\u2009T(p.Arg277*) and a novel substitution c.1196\u2009+\u20091G\u2009&gt;\u2009A corresponding with significantly increased urinary L-2-hydroxyglutarate (L2HG) excretion. A 6-month period of treatment with riboflavin (100\u00a0mg\/day) was implemented with no clinical nor biochemical effect.\n                  <\/jats:p>","DOI":"10.1007\/s13353-025-00974-4","type":"journal-article","created":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T23:55:45Z","timestamp":1747439745000},"page":"443-449","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review"],"prefix":"10.1007","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1849-8375","authenticated-orcid":false,"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Bogda\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Jurkiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,5,17]]},"reference":[{"issue":"4","key":"974_CR1","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1097\/MS9.0000000000000326","volume":"85","author":"S Ahmed","year":"2023","unstructured":"Ahmed S, Siddiqui A, DeBerardinis RJ, Ni M, Gu Lai W, Cai F, Vu HS, Afroze B (2023) L-2-hydroxyglutaric aciduria - review of literature and case series. 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