{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:57:16Z","timestamp":1793750236208,"version":"4.6.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fanconi\u2010Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by impaired glucose liver homeostasis and proximal renal tubular dysfunction. It is caused by pathogenic variants in\n                    <jats:italic>SLC2A2<\/jats:italic>\n                    coding for the glucose transporter GLUT2. Main clinical features include hepatomegaly, fasting hypoglycaemia, postprandial hyperglycaemia, Fanconi\u2010type tubulopathy occasionally with rickets, and a severe growth disorder. While treatment for renal tubular dysfunction is well established, data regarding optimal nutritional therapy are scarce. Similarly, detailed clinical evaluation of treated FBS patients is lacking. These unmet needs were an incentive to conduct the present pilot study. We present clinical findings, laboratory parameters and molecular genetic data on 11 FBS patients with emphasis on clinical outcome under various nutritional interventions. At diagnosis, the patients' phenotypic severity could be classified into two categories: a first group with severe growth failure and rickets, and a second group with milder signs and symptoms. Three patients were diagnosed early and treated because of family history. All patients exhibited massive glucosuria at diagnosis and some in both groups had fasting hypoglycaemic episodes. Growth retardation improved drastically in all five patients treated by intensive nutritional intervention (nocturnal enteral nutrition) and uncooked cornstarch with final growth parameters in the normal range. The four severely affected patients who were treated with uncooked cornstarch alone did not catch up growth. All patients received electrolytes and\n                    <jats:sc>l<\/jats:sc>\n                    \u2010carnitine supplementation to compensate for the tubulopathy. This is one of the largest series of FBS on therapeutic management with evidence that nocturnal enteral nutrition rescues growth failure.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12203","type":"journal-article","created":{"date-parts":[[2019,12,9]],"date-time":"2019-12-09T10:29:07Z","timestamp":1575887347000},"page":"540-548","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi\u2010Bickel syndrome"],"prefix":"10.1002","volume":"43","author":[{"given":"Alessandra","family":"Pennisi","sequence":"first","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"Division of Metabolic Diseases, Department of Paediatric Specialties Bambino Ges\u00f9 Children's Hospital  Rome Italy"},{"name":"Department of Pediatrics University La Sapienza of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Maranda","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"Department of Medical Genetics Universit\u00e9 de Sherbrooke  Sherbrooke Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Benoist","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Baudouin","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Rigal","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Centre Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Romana Lepri","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Bambino Ges\u00f9 Children's Hospital IRCCS  Rome 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Paris France"},{"name":"UMR1141, PROTECT, INSERM Paris University  Paris France"},{"name":"Reference Centre for Inborn Errors of Metabolism Necker University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"359","article-title":"Chronic aminoaciduria (amino acid diabetes or nephrotic\u2010glucosuric dwarfism) in glycogen storage and cystine disease","volume":"4","author":"Fanconi G","year":"1949","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050937"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13104-016-2184-2"},{"key":"e_1_2_8_5_1","first-page":"95","article-title":"Phenotypic variability in patients with fanconi\u2010bickel syndrome with identical mutations","volume":"15","author":"Fridman E","year":"2015","journal-title":"JIMD 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MacDonald A. Stafford J. White F. &Portnoi P.(2014).18 Disorders of Carbohydrate Metabolism.In:Shaw V(ed)Clin Paediatr 4th edn.Oxford Boston Wiley\u2010Blackwell","DOI":"10.1002\/9781118915349.ch18"},{"key":"e_1_2_8_11_1","volume-title":"GeneReviews\u00ae. University of","author":"Bali DS","year":"1993"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0638-6"},{"key":"e_1_2_8_13_1","first-page":"65","article-title":"[Fanconi\u2010Bickel syndrome with SLC2A2 gene mutation in a child]. 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