title: Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
abstract: BACKGROUND
  Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.
  
  
  METHODS
  4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria.
  
  
  RESULTS
  A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome.
  
  
  CONCLUSIONS
  Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia.
authors: Division of Pediatric Endocrinology, Department of Pediatrics, Bai Jerbai Wadia Hospital for Children, Mumbai, India; *Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, UK; and Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom. Correspondence to: Dr Sudha Rao, D 103, Tycoons Residency, Club Road, Opp. KDMC Ward B Office, Kalyan (West), Thane, India. c_sudha@hotmail.com.
authors: Ruchi
authors: R
authors: Shah
authors: Sudha
authors: S
authors: Rao
authors: Ruchi
authors: R
authors: Parikh
authors: Tahir
authors: T
authors: Sophia
authors: Hussain
authors: H
authors: Khalid
mesh_terms: D002675:Child, Preschool; D003919:Diabetes Insipidus; D005198:Fanconi Syndrome; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006801:Humans; D053565:Hypercalciuria; D008297:Male; D009154:Mutation
chemical_list: D051273:Glucose Transporter Type 2; C495680:SLC2A2 protein, human