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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.04.010
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.434-441

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.