{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:53:42Z","timestamp":1747191222091,"version":"3.40.5"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:00:00Z","timestamp":1712188800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Psychiatry"],"published-print":{"date-parts":[[2024,4,4]]},"abstract":"<jats:p>Fanconi\u2013Bickel syndrome (FBS) is a rare metabolic disorder caused by decreased glucose transporter 2 (GLUT2) function due to several known mutations in the SLC2A2 gene. As of 2020, 144 cases of FBS have been described in the literature. Metabolic and somatic sequelae include dysglycemia and accumulation of glycogen in the kidney and liver. However, there are no descriptions in the literature of possible neuropsychiatric manifestations of FBS. This case report is to our knowledge the first in this regard, describing a patient with FBS who was admitted to our psychiatric inpatient unit while experiencing acute mania. We conceptualize the case as a novel psychiatric presentation of acute mania in FBS, which may inform our understanding of bipolar disorder pathophysiology because of the hypothesized functional changes in neural pathways involving the paraventricular thalamus induced by decreased GLUT2 activity in FBS.<\/jats:p>","DOI":"10.1155\/2024\/5593846","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T21:50:10Z","timestamp":1712267410000},"page":"1-5","source":"Crossref","is-referenced-by-count":0,"title":["Presentation and Management of Acute Mania in Fanconi\u2013Bickel Syndrome, A Metabolic Genetic Disorder"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6990-7044","authenticated-orcid":true,"given":"Allen P. F.","family":"Chen","sequence":"first","affiliation":[{"name":"Medical Scientist Training Program, Renaissance School of Medicine, Stony Brook, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geoffrey","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Renaissance School of Medicine, Stony Brook, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amnie","family":"Ashour","sequence":"additional","affiliation":[{"name":"The Division of General Surgery at New York-Presbyterian, Brooklyn, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeeb","family":"Yacoub","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Renaissance School of Medicine, Stony Brook, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2015.04.009"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/wps.20252"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.31887\/DCNS.2018.20.1\/bpenninx"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22158142"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-014-3451-1"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1186\/s40345-016-0054-4"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2020.00314"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-9-12"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2022.101319"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2000.01366.x"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.4.1281"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23071"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-015-0540-y"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1089\/dia.2011.0191"},{"issue":"5","key":"15","first-page":"359","article-title":"Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease","volume":"4","author":"G. Fanconi","year":"1949","journal-title":"Helvetica Paediatrica Acta"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21176286"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4331"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-022-01129-y"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2020.598469"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2014.00073"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.3389\/fnint.2021.662293"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1002\/syn.10298"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2021.627633"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5618.2012.01015.x"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1080\/17470919.2013.839480"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2013.04.007"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5618.2012.01022.x"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2009.04.035"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2016.08.011"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00241-X"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)31544-0"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.21203\/rs.3.rs-2846448\/v1"}],"container-title":["Case Reports in Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crips\/2024\/5593846.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crips\/2024\/5593846.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crips\/2024\/5593846.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T21:50:14Z","timestamp":1712267414000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crips\/2024\/5593846\/"}},"subtitle":[],"editor":[{"given":"Toshiya","family":"Inada","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,4,4]]},"references-count":32,"alternative-id":["5593846","5593846"],"URL":"https:\/\/doi.org\/10.1155\/2024\/5593846","relation":{},"ISSN":["2090-6838","2090-682X"],"issn-type":[{"type":"electronic","value":"2090-6838"},{"type":"print","value":"2090-682X"}],"subject":[],"published":{"date-parts":[[2024,4,4]]}}}