hrp0089p2-p298 | Multisystem Endocrine Disorders P2 | ESPE2018

Fanconi-Bickel Syndrome in Sudanese Children, Case Series

SA Elhassan , AM Arabi , MA Abdullah , FH Sansbury

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...