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Research Article, Jj Hypo Hyperglycemia Vol: 2 Issue: 1

A Novel Mutation in the GLUT2 Gene Case Report of Fanconi-Bickel Syndrome in a Female Indian Patient

Gunvanti B. Rathod1*, PragneshParmar2, Sangita Rathod3, Ashish Parikh4
1Department of Pathology, SBKS Medical Institute and Research Centre of Paediatrics Thanjavur Vadodara, Gujarat, India
2Department of Forensic Medicine, SBKS Medical Institute and Research Centre Vadodara, Gujarat, India
3Department of Medicine, AMC MET Medical College, Sheth LG General Hospital. Ahmedabad, Gujarat, India
4Consultant Physician, Gayatri Hospital, Gandhinagar, Gujarat, India
Corresponding author : Poovazhagi Varadarajan
Govt. Raja Mirasdar Hospital, Thanjavur Medical College, Thanjavur, Tamil Nadu, India
E-mail: [email protected]
Received: July 24, 2014 Accepted: October 29, 2014 Published: November 05, 2014
Citation: Poovazhagi V, Sridhurga U, Prabha S, Sujatha J (2015) A Novel Mutation in the GLUT2 Gene – Case Report of Fanconi-Bickel Syndrome in a Female Indian Patient. J Hypo Hyperglycemia 2:1. doi:10.4172/2327-4700.1000106

Abstract

Abstract
A female infant born out of 3rd degree consanguineous parents presented at 1 year of age with polyuria, polydipsia and glycosuria for 6 months. History revealed motor developmental delay. Investigations showed fasting hypoglycemia, postprandial hyperglycemia, renal glycosuria, generalized aminoaciduria, and renal rickets. Genetic evaluation revealed a novel mutation in exon2 of SLC2A2 a T-to-G substitution (c56T>G) confirming the diagnosis of Fanconi Bickel syndrome (FBS).

Keywords: Glycosuria; Renal rickets; Hepatomegaly; GLUT 2 receptor

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