{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T13:08:12Z","timestamp":1780664892928,"version":"3.54.1"},"reference-count":10,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,5,27]]},"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:p>\n                    Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic epilepsy classically presenting with refractory neonatal seizures that respond to pharmacological doses of pyridoxine (vitamin B6). Although traditionally regarded as a neonatal disorder, later presentations are increasingly recognised. We report an adolescent patient with long-standing treatment-resistant epilepsy and learning disability who was ultimately diagnosed with PDE. Whole genome sequencing identified compound-heterozygous pathogenic variants in\n                    <jats:italic>ALDH7A1<\/jats:italic>\n                    . The diagnosis was further supported by elevated urinary and plasma \u03b1-aminoadipic semialdehyde levels. Initiation of pyridoxine therapy combined with lysine-reduction treatment resulted in sustained seizure control and allowed gradual withdrawal of conventional antiseizure medications. This case highlights the importance of considering PDE in older children and adolescents with refractory epilepsy and neurodevelopmental impairment and demonstrates the value of integrating genomic and metabolic investigations to establish a definitive diagnosis.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272010","type":"journal-article","created":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T12:25:16Z","timestamp":1780662316000},"page":"e272010","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Adolescent diagnosis of pyridoxine-dependent epilepsy"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6343-9078","authenticated-orcid":false,"given":"Ahmed Aaid","family":"Osman","sequence":"first","affiliation":[{"name":"Paediatrics, East Sussex Healthcare NHS Trust, Saint Leonards-on-Sea, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lalani","family":"Heva","sequence":"additional","affiliation":[{"name":"Paediatrics, East Sussex Healthcare NHS Trust, Saint Leonards-on-Sea, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajit","family":"Kamal","sequence":"additional","affiliation":[{"name":"Paediatrics, East Sussex Healthcare NHS Trust, Saint Leonards-on-Sea, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,6,5]]},"reference":[{"key":"2026060505251029000_19.6.e272010.1","unstructured":"Gospe SM . Pyridoxine-dependent epilepsy \u2013 ALDH7A1. In: GeneReviews. 2006. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1486\/"},{"key":"2026060505251029000_19.6.e272010.2","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/jimd.12332","article-title":"Consensus guidelines for the diagnosis and management of pyridoxine\u2010dependent epilepsy due to \u03b1\u2010aminoadipic semialdehyde dehydrogenase deficiency","volume":"44","author":"Coughlin","year":"2021","journal-title":"J of Inher Metab Disea"},{"key":"2026060505251029000_19.6.e272010.3","doi-asserted-by":"crossref","first-page":"599","DOI":"10.24953\/turkjped.2019.04.019","article-title":"The case of PDE misdiagnosed as non-ketotic hyperglycinemia","volume":"61","author":"Gazeteci-Tekin","year":"2019","journal-title":"Turk J Pediatr"},{"key":"2026060505251029000_19.6.e272010.4","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100014050"},{"key":"2026060505251029000_19.6.e272010.5","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2024.1501238"},{"key":"2026060505251029000_19.6.e272010.6","doi-asserted-by":"crossref","unstructured":"Lipi\u0144ski P , W\u00f3jcicka-Kowalczyk K , Bogda\u0144ska A , et al . Early molecular diagnosis of ALDH7A1 deficiency in newborns. Front Genet 2024. doi:10.3389\/fgene.2024.1464556","DOI":"10.3389\/fgene.2024.1464556"},{"key":"2026060505251029000_19.6.e272010.7","doi-asserted-by":"crossref","DOI":"10.1093\/omcr\/omaa008","article-title":"A case of PDE with novel ALDH7A1 mutations","volume":"2020","author":"Dowa","year":"2020","journal-title":"Oxford Med Case Rep"},{"key":"2026060505251029000_19.6.e272010.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa202"},{"key":"2026060505251029000_19.6.e272010.9","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232416061","article-title":"Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency","volume":"23","author":"B\u00f6hm","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2026060505251029000_19.6.e272010.10","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a006197","article-title":"A case for newborn screening for PDE","volume":"8","author":"Coughlin","year":"2022","journal-title":"Mol Case Stud"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T12:25:19Z","timestamp":1780662319000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6,5]]},"published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1136\/bcr-2026-272010"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272010","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]}}}