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Diseases

Genetic and Rare Diseases Information Center (GARD)

Fanconi Bickel syndrome


Other Names for this Disease
  • Hepatorenal glycogenosis with renal Fanconi syndrome
  • Hepatorenal glycogenosis with renal fanconi syndrome
  • Hepatic glycogenosis with amino aciduria and glucosuria
  • Fanconi syndrome with intestinal malabsorption and galactose intolerance
  • Pseudo-Phlorizin diabetes
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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]
Last updated: 12/12/2012

References

  1. Dominique-Charles Valla. Glycogen storage disease due to GLUT2 deficiency. Orphanet. October 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2088. Accessed 12/12/2012.
  2. 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; 105(3):433-437.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Hepatorenal glycogenosis with renal Fanconi syndrome
  • Hepatorenal glycogenosis with renal fanconi syndrome
  • Hepatic glycogenosis with amino aciduria and glucosuria
  • Fanconi syndrome with intestinal malabsorption and galactose intolerance
  • Pseudo-Phlorizin diabetes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.