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Fanconi Bickel syndrome


Other Names:
Hepatorenal glycogenosis with renal Fanconi syndrome; Hepatorenal glycogenosis with renal fanconi syndrome; Hepatic glycogenosis with amino aciduria and glucosuria; 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; Glycogenosis Fanconi type; Glycogen storage disease XI; GLUT2 deficiency; Glycogen storage disease due to GLUT2 deficiency See More
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Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use.[1] People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and  weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).[2] 

Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing. Treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys.[3]
Last updated: 2/27/2017
Fanconi Bickel syndrome is characterized by the accumulation of glycogen in the liver and kidneys. This causes symptoms such as having weakened bones (rickets), being very small for one’s age (failure to thrive), and a specific type of kidney malfunction called renal tubular dysfunction. The accumulation of glycogen can also cause swelling of the liver and spleen (hepatosplenomegaly).[4] Between meals, affected individuals may have low blood sugar (hypoglycemia). People with Fanconi Bickel syndrome typically enter puberty later than expected. As adults, the weakened bones may result in osteopenia or osteoporosis.[1] Adults with Fanconi Bickel syndrome may be shorter than other people, and they may have bowed legs.[5]
Last updated: 2/27/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] 		0003270
Acidosis 0001941
Autosomal recessive inheritance 0000007
Chronic acidosis 0012468
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] 		0003155
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Generalized aminoaciduria 0002909
Global developmental delay 0001263
Glycosuria
Glucose in urine
0003076
Hyperphosphaturia
High urine phosphate levels
0003109
Hypokalemia
Low blood potassium levels
0002900
Hypophosphatemia
Low blood phosphate level
0002148
Hypouricemia
Low blood uric acid levels
0003537
Impairment of galactose metabolism 0004915
Malabsorption
Intestinal malabsorption
0002024
Osteomalacia
Softening of the bones
0002749
Poor appetite
Decreased appetite
0004396
Reduced subcutaneous adipose tissue
Reduced fat tissue below the skin
0003758
Renal tubular dysfunction
Abnormal function of filtrating structures in kidney
0000124
Showing of 19 |
Last updated: 7/1/2020
Fanconi Bickel syndrome is caused by a mutation in the SLC2A2 gene. This gene tells the body how to make a protein called glucose-transporter protein 2 (GLUT2). This protein is responsible for transporting glucose through different cells in the body. When GLUT2 is not working properly because of a mutation in SLC2A2, the body cannot transport glucose. Therefore, glucose builds up in the liver and kidneys. This glucose is stored as glycogen, and the buildup of glycogen in these body parts cause the symptoms of Fanconi Bickel syndrome.[6]  
Last updated: 2/27/2017
Fanconi Bickel syndrome is inherited in an autosomal recessive manner.[2] This means that a person affected with Fanconi Bickel syndrome has changed (mutated) copies of both SLC2A2 genes. We inherit one copy of each gene from our mother and the other from our father. A person with only one changed copy of SLC2A2 typically does not have symptoms and is known as a carrier. The children of any two carriers have a:
  • 25% chance of being unaffected
  • 50% chance of being a carrier like both parents
  • 25% chance of having Fanconi Bickel syndrome.[2] 
Last updated: 2/27/2017
Fanconi Bickel syndrome is diagnosed by a clinical examination that is consistent with symptoms of the condition. This clinical evaluation may reveal findings such as rickets (weakened bones) and high levels of glucose, protein, and phosphate in the urine. People with Fanconi Bickel syndrome may also have low levels of phosphate and high levels of cholesterol in the blood. People with Fanconi Bickel syndrome tend to have low blood sugar (hypoglycemia) between meals. If a diagnosis of Fanconi Bickel syndrome is suspected, it can be confirmed with genetic testing of the SLC2A2 gene.[2]
Last updated: 2/27/2017
Management of Fanconi Bickel syndrome (FBS) generally focuses on treating the signs and symptoms of the condition. For treatment of the symptoms of kidney disease, a doctor may focus on replacing the water and electrolytes that are lost from the kidneys. Additionally, vitamin D and phosphate supplements can help prevent bone weakening (rickets).[6] 

It is recommended that people with Fanconi Bickel syndrome follow a galactose-restricted diet. Galactose is a substance that is broken down into glucose. Because people with Fanconi Bickel syndrome have trouble moving glucose throughout the body, limiting galactose prevents the buildup of glucose and glycogen in the liver and kidneys. Galactose is found in food such as milk, cheese, yogurt, and legumes. People with Fanconi Bickel syndrome should primarily eat fructose as their main carbohydrate. In addition, people with Fanconi Bickel syndrome should eat small, frequent meals in order to avoid developing low blood sugar between meals. Finally, cornstarch may be used as a substitute to provide necessary sugars to the body.[6]
Last updated: 2/27/2017
The treatments mentioned above may alleviate some of the signs and symptoms of the condition. The symptoms of kidney disease and the swelling of the liver and spleen typically resolve before adulthood. However, dietary treatments and supplements typically do not improve growth, which can result in short stature during adulthood.[7] 

Some of the symptoms of Fanconi Bickel syndrome such as rickets can have a large effect on people’s lives. However, with the proper treatment, some of the symptoms of Fanconi Bickel syndrome can resolve with age. People with this condition have been known to reach adulthood, and there have been reports that affected individuals can have children of their own.[7] 
Last updated: 2/27/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The principle differential diagnosis is type I glycogen storage disease, which is caused by glucose-6-phosphatase deficiency. The renal phenotype must be differentiated from other forms of genetically determined Fanconi Syndrome.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What are the treatments for Fanconi Bickel syndrome? See answer


  1. Berg JM, Tymoczko JL, and Stryer L. Chapter 21: Glycogen Metabolism. Biochemistry. New York: WH Freeman; 2002; 5th edition:https://www.ncbi.nlm.nih.gov/books/NBK21190/.
  2. 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.
  3. Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, and Wadhwa N. Fanconi Bickel syndrome – mutation in SLC2A2 gene. Indian Journal of Pediatrics. November 2014; 81(11):1237-1239. https://www.ncbi.nlm.nih.gov/pubmed/24912437.
  4. 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.
  5. Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi-Bickel syndrome. Indian Journal of Pediatrics. January 2012; 79(1):112-114. https://www.ncbi.nlm.nih.gov/pubmed/21327337.
  6. Fanconi-Bickel syndrome; FBS. Online Mendelian Inheritance in Man; October 6, 2014; https://www.omim.org/entry/227810.
  7. Pena L and Charrow J. Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. American Journal of Medical Genetics. February 2011; 155A(2):415-417. https://www.ncbi.nlm.nih.gov/pubmed/21271664.