Fanconi-bickel syndrome

K. Mohandas Nair, Osamu Sakamoto, Sujatha Jagadeesh, Sheela Nampoothiri

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

We Present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.

Original languageEnglish
Pages (from-to)112-114
Number of pages3
JournalIndian Journal of Pediatrics
Volume79
Issue number1
DOIs
Publication statusPublished - 2012 Jan 1

Keywords

  • Fanconi syndrome
  • Fanconi-Bickel syndrome
  • Glycogen storage disease type XI
  • Rickets

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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