Poovazhagi V | Author | SciTechnol | Endocrinology & Diabetes Re

Poovazhagi V Author

poovazhagi@gmail.com

Subjects of specialization
pediatrics

Affiliation
Associate professor of pediatrics at Thanjavur Medical College,Thanjavur

Biography

Healthcare Technology Innovation Centre, Tamil Nadu Dr MGR Medical University Associate professor of pediatrics at Thanjavur Medical College,Thanjavur Healthcare Technology Innovation Centre, Tamil Nadu Dr MGR Medical University Associate professor of pediatrics at Thanjavur Medical College,Thanjavur

Publications

Research Article Subscription

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).

DOI: 10.4172/2327-4700.1000106

Abstract HTML