Living with Fanconi-Bickel syndrome
A rare condition in which the body doesn't store sugar (glycogen) properly, causing slow growth, frequent urination and weak bones.
Understanding Fanconi-Bickel syndrome
People with FBS do not store the right amount of glycogen, the form in which the body stores sugar. Signs begin in the first few months of life. Later, children may have short height and a swollen liver and spleen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth (failure to thrive)
- Frequent urination (polyuria)
- Weak, soft bones (rickets)
- Enlarged liver
- Swollen belly
- Trouble handling sugar (impaired glucose tolerance)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC2A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Association of Kidney Patients and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC2A2 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bickel-fanconi glycogenosis; fanconi bickel syndrome; fanconi syndrome with intestinal malabsorption and galactose intolerance; fanconi-bickel disease; fbs; glycogen storage disease due to glut2 deficiency
Patient organizations
- American Association of Kidney PatientsFanconi-Bickel syndrome · United States
- Association for Glycogen Storage DiseaseFanconi-Bickel syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fanconi-Bickel syndrome.
Explore research for Fanconi-Bickel syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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