title: Fanconi-Bickel syndrome.
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.
authors.affiliation: Department of Pediatrics, Medical College, Calicut, Kerala, India.
authors.lastname: Mohandas Nair K
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Sujatha
authors.initials: S
authors.lastname: Jagadeesh
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
mesh_terms: D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis / Q000235:genetics*; D005198:Fanconi Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006801:Humans; D007194:India; D009154:Mutation
chemical_list: D051273:Glucose Transporter Type 2; C495680:SLC2A2 protein, human