Fanconi Bickel syndrome

Title

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 See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases; Metabolic disorders See More

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abdominal distention	-
Autosomal recessive inheritance	-
Chronic acidosis	-
Decreased subcutaneous fat	-
Elevated alkaline phosphatase	-
Failure to thrive	-
Generalized aminoaciduria	-
Glycosuria	-
Hyperphosphaturia	-
Hypokalemia	-
Hypophosphatemia	-
Hypouricemia	-
Impairment of galactose metabolism	-
Malabsorption	-
Osteomalacia	-
Poor appetite	-
Renal tubular dysfunction	-

Last updated: 9/1/2016

Treatment Treatment

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

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Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: info@aakp.org
http://www.aakp.org/
Association for Glycogen Storage Disease
PO Box 896
Durant, IA 52747
Telephone: 1-563-514-4022
E-mail: info@agsdus.org
Website: http://www.agsdus.org
Association for Glycogen Storage Disease UK
Old Hambledon Racecourse
Sheardley Lane
Droxford, Hampshire, SO32 3QY
United Kingdom
Telephone: 0300 123 2790 (Office hrs, Mon-Thurs) or 0300 123 2799 (Out of hours)
Website: http://www.agsd.org.uk/
Children's Fund for Glycogen Storage Disease Research, Inc.
917 Bethany Mountain Road
Cheshire, CT 06410
Telephone: 203-272-2873
E-mail: info@curegsd.org
Website: http://www.cureGSD.org
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: http://www.kidney.org/about/contact.cfm
Website: http://www.kidney.org

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

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.

GARD Answers GARD Answers

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What are the treatments for Fanconi Bickel syndrome? See answer

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References References

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.
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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