{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:51:30Z","timestamp":1791478290229,"version":"4.3.4"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0654_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      A rare autosomal recessive disorder known as Fanconi\u2013Bickel syndrome (FBS) is caused by variants in the SLC2A2 gene. This gene is responsible for encoding the glucose transporter 2 (GLUT2) protein. FBS is characterised by hepatomegaly, proximal renal tubular dysfunction, glucosuria, rickets and growth retardation. Here, we present a case of an\n                      <jats:italic>SLC2A2<\/jats:italic>\n                      gene variant with an unusual clinical presentation involving extreme hepatic transaminase elevations during infectious episodes, a feature not commonly associated with\u00a0FBS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0654_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A male infant presented at 12\u00a0days of age with severe cholestasis and hepatomegaly. During follow-up, hypophosphatemic rickets and proximal renal tubular dysfunction emerged. Genetic analysis revealed a novel homozygous frameshift variant in the\n                      <jats:italic>SLC2A2<\/jats:italic>\n                      gene (c.482dup; p.Gly162ArgfsTer17). During the clinical course, the most severe episodes were observed during infections, accompanied by elevations in liver enzymes. Management required glucose infusion and supportive therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0654_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This article describes an\n                      <jats:italic>SLC2A2<\/jats:italic>\n                      gene variant that had not been identified previously and shows that patients carrying this variant may be at risk of excessive liver involvement during infections. Therefore, it is emphasized that such patients should be monitored more closely and treated promptly during infections.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0654","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T19:20:52Z","timestamp":1778095252000},"page":"1076-1079","source":"Crossref","is-referenced-by-count":0,"title":["A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8689-2702","authenticated-orcid":false,"given":"Melda Fatma","family":"\u0130driso\u011flu","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism , Health Science University, Prof. Dr. Cemil Ta\u015fc\u0131oglu City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2634-6535","authenticated-orcid":false,"given":"Nihal","family":"Kazar Hakg\u00f6r","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Health Science University, Prof. Dr. Cemil Ta\u015fc\u0131oglu City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0348-6267","authenticated-orcid":false,"given":"Biray","family":"Ert\u00fcrk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Health Science University, Prof. Dr. Cemil Ta\u015fc\u0131oglu City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-4082","authenticated-orcid":false,"given":"Nafiye Emel","family":"\u00c7akar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Health Science University, Prof. Dr. Cemil Ta\u015fc\u0131oglu City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,5,7]]},"reference":[{"key":"2026100815572198929_j_jpem-2025-0654_ref_001","unstructured":"Fanconi, G, Bickel, H. Die chronische Aminoacidurie (Aminos\u00e4urediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage disease and cystine disease]. Helv Paediatr Acta 1949;4:359\u201396."},{"key":"2026100815572198929_j_jpem-2025-0654_ref_002","doi-asserted-by":"crossref","unstructured":"Santer, R, Schneppenheim, R, Suter, D, Schaub, J, Steinmann, B. Fanconi\u2013bickel syndrome: the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 1998;157:783\u201397. https:\/\/doi.org\/10.1007\/s004310050937.","DOI":"10.1007\/s004310050937"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_003","doi-asserted-by":"crossref","unstructured":"Santer, R, Steinmann, B, Schaub, J. Fanconi\u2013bickel syndrome: a congenital defect of facilitative glucose transport. Curr Mol Med 2002;2:213\u201327. https:\/\/doi.org\/10.2174\/1566524024605743.","DOI":"10.2174\/1566524024605743"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_004","unstructured":"Nana, M, Anastasopoulou, C, Parikh, NS, Ahlawat, R. Glycogen storage disease type I. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK534196\/."},{"key":"2026100815572198929_j_jpem-2025-0654_ref_005","doi-asserted-by":"crossref","unstructured":"Thorens, B. Molecular and cellular physiology of GLUT2, a high-Km facilitated diffusion glucose transporter. Int Rev Cytol 1992;137:209\u201338. https:\/\/doi.org\/10.1016\/S0074-7696(08)62677-7.","DOI":"10.1016\/S0074-7696(08)62677-7"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_006","doi-asserted-by":"crossref","unstructured":"Peduto, A, Spada, M, Alluto, A, La Dolcetta, M, Ponzone, A, Santer, R. A novel mutation in the GLUT2 gene in a patient with Fanconi\u2013Bickel syndrome detected by neonatal screening for galactosaemia. J\u00a0Inherit Metab Dis 2004;27:279\u201380. https:\/\/doi.org\/10.1023\/B:BOLI.0000028841.00833.F4.","DOI":"10.1023\/B:BOLI.0000028841.00833.f4"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_007","doi-asserted-by":"crossref","unstructured":"Al-Haggar, M, Sakamoto, O, Shaltout, A, El-Hawary, A, Wahba, Y, Abdel-Hadi, D. Fanconi\u2013Bickel syndrome: novel mutations in the GLUT2 gene causing a distinct form of renal tubular acidosis in two unrelated Egyptian families. Case Rep Nephrol 2011;2011:754369. https:\/\/doi.org\/10.1155\/2011\/754369.","DOI":"10.1155\/2011\/754369"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_008","doi-asserted-by":"crossref","unstructured":"Magen, D, Berger, L, Coady, MJ, Ilivitzki, A, Militianu, D, Tieder, M, et al.. A loss-of-function mutation in NaPi-IIa and renal Fanconi syndrome. N\u00a0Engl J Med 2010;362:1102\u20139. https:\/\/doi.org\/10.1056\/NEJMoa0905647.","DOI":"10.1056\/NEJMoa0905647"},{"key":"2026100815572198929_j_jpem-2025-0654_ref_009","doi-asserted-by":"crossref","unstructured":"Foretz, M, Thorens, B. The facilitative glucose transporter 2: pathophysiological role in mouse and human. In: Br\u00f6er, S, Wagner, CA, editors. Membrane Transporter Disease, 1st ed. New York (NY): Kluwer Academic\/Plenum; 2003:175\u201390\u00a0pp.","DOI":"10.1007\/978-1-4419-9023-5_12"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0654\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0654\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T15:58:25Z","timestamp":1791475105000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0654\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,7]]},"references-count":9,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,7,27]]},"published-print":{"date-parts":[[2026,10,26]]}},"alternative-id":["10.1515\/jpem-2025-0654"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2025-0654","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,7]]}}}