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Fanconi Bickel syndrome
Other Names for this Disease
- Fanconi syndrome with intestinal malabsorption and galactose intolerance
- GLUT2 deficiency
- Glycogen storage disease XI
- Glycogenosis Fanconi type
- Hepatic glycogenosis with amino aciduria and glucosuria
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Overview
Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism.[1] Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood.[2][1] Puberty is delayed. FBS is inherited in an autosomal recessive manner and is caused by mutations in the SLC2A2 gene. Treatment is generally symptomatic.[1]
References
- Dominique-Charles Valla. Glycogen storage disease due to GLUT2 deficiency. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2088. Accessed December 12, 2012.
- Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab. March 2012.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi Bickel syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fanconi Bickel syndrome. Click on the link to go to OMIM and review these resources.