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. © Dr. K C Chaudhuri Foundation 2011.
cited By (since 1996)1
KaMohandas Nair, Sakamoto, Ob, Jagadeesh, Sc, and Nampoothiri, Sd, “Fanconi-bickel Syndrome”, Indian Journal of Pediatrics, vol. 79, pp. 112-114, 2012.