Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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]

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

OMIM.ORG article

Omim 227810 external link
8.

Wikipedia article

Wikipedia EN (Glycogen_storage_disease_type_XI) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits