title: Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
abstract: Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence of proximal renal tubular dysfunction. Liver biopsy demonstrated evidence of glycogenosis. Direct sequencing of genomic DNA confirmed a diagnosis of Fanconi-Bickel syndrome, revealing a G-to-A substitution at position -1 of the splicing acceptor site in intron 1 of the GLUT2 gene in a homozygous pattern (c.16-1G>A or IVS1-1G>A). This novel mutation has not been described in earlier studies. The child was treated with oral potassium citrate, oral phosphorus supplementation, and alpha-calcitriol, on which metabolic derangements were corrected.
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, Pondicherry, 605006, India.
authors.forename: Arun
authors.initials: A
authors.lastname: Gopalakrishnan
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, Pondicherry, 605006, India.
authors.forename: Manish
authors.initials: M
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, Pondicherry, 605006, India. drsriramk@yahoo.com.
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, 980-8574, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, Pondicherry, 605006, India.
authors.forename: Sadagopan
authors.initials: S
authors.lastname: Srinivasan
mesh_terms: D002117:Calcitriol / Q000627:therapeutic use; D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000188:drug therapy / Q000235:genetics*; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D010758:Phosphorus / Q000627:therapeutic use; D019357:Potassium Citrate / Q000627:therapeutic use
chemical_list: D051273:Glucose Transporter Type 2; D010758:Phosphorus; D019357:Potassium Citrate; D002117:Calcitriol