Living with Fructose-biphosphatase deficiency
An inherited metabolic condition in which the body can't properly make glucose, its main sugar for energy.
Understanding Fructose-biphosphatase deficiency
Glucose is the main sugar in the blood and a main source of energy for cells. The condition is caused by a lack of an enzyme called fructose-1,6-bisphosphatase. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diarrhea
- Vomiting
- Drowsiness
- Breathing difficulties
- Pauses in breathing in infancy
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 genetic specialists.
- 3Consider genetic testing
Changes in FBP1 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
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 FBP1 gene cause a lack of the enzyme fructose-1,6-bisphosphatase. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fbp1d; fbpase deficiency; fructose 1 phosphate aldolase deficiency; fructose 1,6 bisphosphatase deficiency; fructose-1,6-bisphosphatase deficiency; fructose-1,6-diphosphatase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fructose-biphosphatase deficiency.
Explore research for Fructose-biphosphatase deficiency
Explore actively recruiting Fructose-biphosphatase deficiency studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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