{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T14:26:21Z","timestamp":1780323981387,"version":"3.54.1"},"reference-count":115,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T00:00:00Z","timestamp":1598832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Accumulation of glycogen in the kidney and liver is the main feature of Fanconi\u2013Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified in SLC2A2 gene of FBS cases. Approximately 144 FBS cases with 70 different SLC2A2 gene variants have been reported so far. SLC2A2 encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells, enterocytes, pancreatic \u03b2-cells, hepatocytes and discrete regions of the brain. Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia (fasting hypoglycemia, postprandial hyperglycemia, glucose intolerance, and rarely diabetes mellitus), hepatomegaly, galactose intolerance, rickets, and poor growth. The molecular mechanisms of dysglycaemia in FBS are still not clearly understood. In this review, we discuss the physiological roles of GLUT2 and the pathophysiology of mutants, highlight all of the previously reported SLC2A2 mutations associated with dysglycaemia, and review the potential molecular mechanisms leading to dysglycaemia and diabetes mellitus in FBS patients.<\/jats:p>","DOI":"10.3390\/ijms21176286","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T08:11:19Z","timestamp":1598861479000},"page":"6286","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Fanconi\u2013Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia"],"prefix":"10.3390","volume":"21","author":[{"given":"Sanaa","family":"Sharari","sequence":"first","affiliation":[{"name":"Division of Biological and Biomedical Sciences, College of Health &amp; Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Education City, Doha, Qatar"},{"name":"Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Abou-Alloul","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Saida Governmental University Hospital, Beirut Arab University, Beirut 115020, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5480-7112","authenticated-orcid":false,"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4242-2941","authenticated-orcid":false,"given":"Faiyaz","family":"Ahmad Khan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,31]]},"reference":[{"key":"ref_1","first-page":"359","article-title":"[Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease]","volume":"4","author":"Fanconi","year":"1949","journal-title":"Helv. 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