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Hindi 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: poomuthu@yahoo.com |
|
| 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).
