Sridhurga U Author
Subjects of specialization
Affiliation
Engineering
Anna university regional office tirunelveli, Francis Xavier Engineering College, Government College of Engineering
AJK College Arts and Science, Advanced Engineering Forum, Bharathiar University, CR Journals, Hindusthan College of Arts and Science, Mazharul uloom College of Arts and Science, Ministry of Human Resource Development, PSG College of Arts and Science
Research Article Subscription
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).