Prabha S Author

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

Author(s):

Poovazhagi V*, Sridhurga U, Prabha S and Sujatha J

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).

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DOI: 10.4172/2327-4700.1000106

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