A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis


TAŞTEMEL ÖZTÜRK T. , BİLGİNER GÜRBÜZ B. , TEKŞAM Ö. , Sivri S.

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.6, pp.693-695, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.06.012
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.693-695

Abstract

Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2). The disease is characterized by proximal renal tubular dysfunction, impaired glucose and galactose utilization, and accumulation of glycogen in the liver and kidney. Signs and symptoms of Fanconi-Bickel syndrome begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and short stature. Here in we report a Turkish Fanconi-Bickel syndrome case who also has situs inversus totalis and a novel mutation that has not been described before.