Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fanconi-Bickel syndrome

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.

Historical Aspects

The syndrome was first described by Fanconi and Bickel in 1949.[Error: Macro 'ref' doesn't exist]

Symptoms

Proximal tubular damage syndrome
Fanconi syndrome was the general term describing all diseases with procimal tubular damage until distinct diseases have been characterized.

Systematic

Metabolic disturbances of proximal tubular function
Cystinosis
Dent disease
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
SLC2A2
Fructose intolerance
Galactosemia
Glycogen storage disease 1
Hepatorenal tyrosinemia
Lowe disease
MELAS syndrome
Wilson disease

References:

1.

FANCONI G et al. (1949) [Not Available]

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2.

Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.

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3.

Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.

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4.

Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

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5.

None (1957) [The glucagon problem in glycogenosis.]

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6.

Manz F et al. (1987) Fanconi-Bickel syndrome.

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7.

OMIM.ORG article

Omim 227810 [^]
8.

Wikipedia article

Wikipedia EN (Glycogen_storage_disease_type_XI) [^]
Update: May 9, 2019