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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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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Treatment

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How might Fanconi Bickel syndrome be treated?

Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets.[1] Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate.[2][1] Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.[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. GrĂ¼nert 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.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.