Fanconi-bickel syndrome

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

doi:10.1007/s12098-011-0373-5

Fanconi-bickel syndrome

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	112-114
Number of pages	3
Journal	Indian Journal of Pediatrics
Volume	79
Issue number	1
DOIs	https://doi.org/10.1007/s12098-011-0373-5
Publication status	Published - 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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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.",

keywords = "Fanconi syndrome, Fanconi-Bickel syndrome, Glycogen storage disease type XI, Rickets",

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AU - Mohandas Nair, K.

AU - Sakamoto, Osamu

AU - Jagadeesh, Sujatha

AU - Nampoothiri, Sheela

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N2 - 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.

AB - 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.

KW - Fanconi syndrome

KW - Fanconi-Bickel syndrome

KW - Glycogen storage disease type XI

KW - Rickets

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