Fanconi Bickel syndrome is an autosomal recessive glycogen storage disease caused by mutations of the SLC2A2 gene. It is characterized by glycogen accumulation in both kidney and liver. The symptoms include renotubular dysfunction, failure to thrive, and hepatospenomegaly.
The syndrome was first described by Fanconi and Bickel in 1949.[Error: Macro 'ref' doesn't exist]
|Proximal tubular damage syndrome|
Fanconi syndrome was the general term describing all diseases with procimal tubular damage until distinct diseases have been characterized.
|Metabolic disturbances of proximal tubular function|
|Fanconi renotubular syndrome|
|Glycogen storage disease 1|
FANCONI G et al. (1949) [Not Available]
Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.
Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
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