{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T18:00:04Z","timestamp":1769277604252,"version":"3.49.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,5,9]],"date-time":"2007-05-09T00:00:00Z","timestamp":1178668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>Fanconi\u2013Bickel syndrome (FBS) is a rare disorder of glucose transport caused by autosomal recessive mutations in <jats:italic>GLUT2<\/jats:italic>. Clinically, FBS results in growth failure, hepatomegaly, renal Fanconi syndrome, and abnormal glucose homeostasis. We report a 23 month old female with FBS characterized by more severe and refractory hypoglycemia than typically seen in this disorder. Although previous reports indicate that FBS patients have diminished insulin secretion, our patient showed evidence of hyperinsulinism (HI). Sequence analysis showed that the patient was homozygous for a known null mutation in <jats:italic>GLUT2<\/jats:italic>, confirming the clinical diagnosis of FBS. Parental genotyping showed that the mother was heterozygous for the <jats:italic>GLUT2 <\/jats:italic>mutation, while the father was wild type. Tandem repeat marker analysis showed that the patient inherited the <jats:italic>GLUT2 <\/jats:italic>mutation via maternal isodisomy of chromosome 3. Further molecular testing showed that the patient was heterozygous for a mutation in <jats:italic>ABCC8<\/jats:italic>, a known cause of congenital HI. We discuss the patient\u2019s biochemical responses in light of the molecular findings.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00802.x","type":"journal-article","created":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T10:20:01Z","timestamp":1178792401000},"page":"551-557","source":"Crossref","is-referenced-by-count":15,"title":["Glucose metabolism and insulin secretion in a patient with <i>ABCC8 <\/i>mutation and Fanconi\u2013Bickel syndrome caused by maternal isodisomy of chromosome 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