Fanconi-Bickel syndrome


Fanconi-Bickel syndrome

A rare autosomal recessive condition (OMIM:227810) characterised by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilisation of glucose and galactose.
Molecular pathology
Caused by defects of SLC2A2, which encodes a glycoprotein of the liver, islet beta cells, intestine and kidney epithelium that mediates facilitated bidirectional glucose transport.