Fanconi Bickel disease, also known as glycogen storage disease (GSD) type XI, is a rare inherited disorder which is inherited in an autosomal recessive pattern. The exact prevalence is unknown. Affected patients have rickets, aminoaciduria, phosphaturia, growth failure, hepatomegaly, and fasting hypoglycemia. Diagnosis can be established through clinical manifestations, radiological findings revealing rickets, and from characteristic laboratory findings. Diagnosis can be confirmed by enzyme study or mutation analysis. Affected patients do not respond to glucagon and suffer impaired glucose and galactose metabolism.
Several mutations in the SLC2A2 gene, previously known as GLUT2, has been found to cause GSD XI. SLC2A2 gene is located on the long arm of chromosome 3 and encodes a protein that facilitates bidirectional glucose transport.