Fanconi-Bickel syndrome
Description
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.
Cell Lines
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.