Fanconi-Bickel syndrome

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Fanconi-Bickel syndrome2016-12-04T07:04:44+00:00

Fanconi-Bickel syndrome

METABOLISM

Definition 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 Defects of SLC2A2, which encodes a glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium that mediates facilitated bidirectional glucose transport, cause Fanconi-Bickel syndrome. 

Synonyms Fanconi syndrome with intestinal malabsorption and galactose intolerance, glycogen storage disease XI, hepatic glycogenosis with Fanconi nephropathy, hepatic glycogenosis with renal Fanconi syndrome, pseudo-phlorizin diabetes 

References http://www.uniprot.org/uniprot/P11168

http://www.omim.org/entry/227810

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