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Many challenges remain: novel symptoms emerge and vary with age. In Glut1DS, KDT in pregnancy and the clinical features in neonates and adults are poorly understood. KDT are ineffective in some patients for reasons yet unknown. Research reaches beyond the concept of brain energy depletion by impaired GLUT1\u2010mediated glucose transfer across the blood\u2013brain barrier. Novel concepts investigate alternative substrates, transport mechanisms, and metabolic interactions of different brain cell types. Future, yet currently unavailable prospects are neonatal screening for Glut1DS, reliable biomarkers, predictors for outcome, and alternative therapies, along with and beyond KDT.<\/jats:p>","DOI":"10.1002\/jimd.70044","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T02:29:16Z","timestamp":1747967356000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-025X","authenticated-orcid":false,"given":"Joerg","family":"Klepper","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neuropediatrics Childrens' Hospital Aschaffenburg  Aschaffenburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109053251006"},{"key":"e_1_2_12_3_1","volume-title":"GeneReviews((R))","author":"Wang D.","year":"1993"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12414"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1222"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.1.63"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100030\u20101248264"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22088"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-10"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00380.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi900521n"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109488"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51767"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13163"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.45"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14138"},{"key":"e_1_2_12_17_1","volume-title":"GeneReviews((R))","author":"Morrow E. 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