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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
More Names
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What is Fanconi Bickel syndrome?

How might Fanconi Bickel syndrome be treated?

What is Fanconi Bickel syndrome?

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

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

  1. Dominique-Charles Valla. Glycogen storage disease due to GLUT2 deficiency. Orphanet. October 2008; 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.