Fanconi-Bickel syndrome

Definition

Fanconi-Bickel syndrome (FBS) is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as GLUT2.

Description

Also known as glycogen storage disease type XI, the disease was first described by scientists G. Fanconi and Horst Bickel in 1949. Since then, only a few dozen cases of FBS have been studied, most in the United States, Europe, and Japan.

Onset of FBS is within the first year of life, with the overt symptom being a failure to thrive. At age two, an enlarged liver and kidneys are present and the child has rickets. The incidence of FBS has not been determined but it is believed to occur in less than one in one million births.