Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical clinical signs are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, rickets, and markedly stunted growth.
Use of the term glycogenosis type XI is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase.
