Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

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Seker-Yilmaz B., Kor D., BULUT F. D., YÜKSEL B., KARABAY BAYAZIT A., TOPALOĞLU A. K., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.4, pp.434-441, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.04.010
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.434-441
  • Keywords: Fanconi-Bickel syndrome, oral glucose tolerance test, hypoglycemia, postprandial hyperglycemia, GLUT2, GENE
  • Çukurova University Affiliated: Yes

Abstract

Fanconi-Bickel syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia even mimicking diabetes mellitus.