A rare case of glycogen storage disease type XI fanconi-bickel syndrome

Abstract

Fanconi-Bickel syndrome (FBS) is an example of proximal Renal tubular dysfunction due to a single gene disorder, it is caused by defects in the facilitative glucose transporter 2 gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic β-cells, enterocytes and renal tubular cells. It is a rare inherited disorder of carbohydrate metabolism manifested by failure to thrive, hepatomegaly, severe hypophosphatemic rickets and proximal renal tubular dysfunction. We present case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease type XI whose incidence is unknown but less than 200 cases have been reported since 1949.

Keywords

• proximal renal tubular dysfunction
• glycogen storage disease type xi
• glut2 gene.