{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T18:22:19Z","timestamp":1791570139466,"version":"4.3.4"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"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":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose\u20101,6\u2010bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. These symptoms are mainly described during acute crises, and many reports do not mention them because hypoglycemia and hyperlactatemia are more frequently in the forefront. Herein, the liver manifestations of 18 patients affected with fructose\u20101,6\u2010bisphosphatase deficiency are described and the corresponding literature is reviewed. Interestingly, all 18 patients had liver abnormalities either during follow\u2010up (hepatomegaly [n\u00a0=\u00a08\/18], elevation of transaminases [n\u00a0=\u00a06\/15], bright liver [n\u00a0=\u00a07\/11]) or during acute crises (hepatomegaly [n\u00a0=\u00a010\/17], elevation of transaminases [n\u00a0=\u00a013\/16], acute liver failure [n\u00a0=\u00a06\/14], bright liver [n\u00a0=\u00a04\/14]). Initial reports described cases of liver steatosis, when liver biopsy was necessary to confirm the diagnosis by an enzymatic study. There is no clear pathophysiological basis for this fatty liver disease but we postulate that endoplasmic reticulum stress and de novo lipogenesis activation could be key factors, as observed in <jats:italic>FBP1<\/jats:italic> knockout mice. Liver steatosis may expose patients to severe long\u2010term liver complications. As hypoglycemia becomes less frequent with age, most adult patients are no longer monitored by hepatologist. Signs of fructose\u20101,6\u2010bisphosphatase deficiency may be subtle and can be missed in childhood. We suggest that fructose\u20101,6\u2010bisphosphatase deficiency should be considered as an etiology of hepatic steatosis, and a liver monitoring protocol should be set up for these patients, during lifelong follow\u2010up.<\/jats:p>","DOI":"10.1002\/jimd.12452","type":"journal-article","created":{"date-parts":[[2021,10,23]],"date-time":"2021-10-23T08:27:54Z","timestamp":1634977674000},"page":"215-222","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Fructose\u20101,6\u2010bisphosphatase deficiency causes fatty liver disease and requires long\u2010term hepatic follow\u2010up"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8089-1429","authenticated-orcid":false,"given":"Magali","family":"Gorce","sequence":"first","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Unit\u00e9 p\u00e9diatrique de 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Necker, Universit\u00e9 Paris\u2010Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Cano","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Service de neurologie p\u00e9diatrique, P\u00e9diatrie sp\u00e9cialis\u00e9e et m\u00e9decine infantile, CHU de Marseille\u2014H\u00f4pital de la Timone  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"De Lonlay","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Institut Imagine, H\u00f4pital Necker, Universit\u00e9 Paris\u2010Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du 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Centre de r\u00e9f\u00e9rence des maladies m\u00e9taboliques h\u00e9r\u00e9ditaires\u2014Cliniques Universitaires Saint\u2010Luc, UCLouvain  Bruxelles Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Roche","sequence":"additional","affiliation":[{"name":"Centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Service de p\u00e9diatrie m\u00e9dicale, CHU Bordeaux, h\u00f4pital Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Centre de comp\u00e9tence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, D\u00e9partement de neurop\u00e9diatrie, P\u00f4le Femme M\u00e8re Enfant, CHRU de Montpellier\u2014H\u00f4pital Gui de Chauliac  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Sacaze","sequence":"additional","affiliation":[{"name":"Centre de 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