Overview
Disorder of fructose metabolism is a group of inherited conditions where the body cannot properly break down fructose, a type of sugar found in fruits, table sugar, honey, and many processed foods. This group includes three main conditions: essential fructosuria (a harmless condition), hereditary fructose intolerance (HFI), and fructose-1,6-bisphosphatase deficiency. The most well-known and clinically significant form is hereditary fructose intolerance, caused by a deficiency of the enzyme aldolase B in the liver. When a person with HFI eats foods containing fructose, sorbitol, or sucrose, toxic substances build up in the liver, kidneys, and small intestine. This can cause severe symptoms including vomiting, low blood sugar (hypoglycemia), liver damage, kidney problems, and failure to thrive in infants. Symptoms typically appear when babies are first introduced to fruits, juices, or formula containing fructose or sucrose. Fructose-1,6-bisphosphatase deficiency primarily causes problems with the body's ability to make glucose during fasting, leading to dangerous episodes of low blood sugar and a buildup of acid in the blood. The cornerstone of treatment for these conditions is strict avoidance of fructose, sucrose, and sorbitol in the diet. With early diagnosis and proper dietary management, people with fructose metabolism disorders can live healthy lives, but delayed diagnosis can lead to serious liver and kidney damage.
Key symptoms:
Vomiting after eating foods with fructose or sugarLow blood sugar (hypoglycemia)Failure to gain weight or grow properly in infantsLiver enlargementJaundice (yellowing of the skin and eyes)Excessive sweating and tremblingAbdominal pain and bloatingAversion to sweet foods and fruitsLethargy and drowsiness after eating sweetsKidney problemsBleeding or bruising easilySeizures from very low blood sugarChronic liver damage if untreatedNausea and poor feeding in infants
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
5 eventsKorea University — NA
Queen Mary University of London — NA
Icahn School of Medicine at Mount Sinai — NA
Arizona State University — NA
Azienda Ospedaliero Universitaria Maggiore della Carita
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of fructose metabolism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of fructose metabolism at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of fructose metabolism.
Community
No community posts yet. Be the first to share your experience with Disorder of fructose metabolism.
Start the conversation →Latest news about Disorder of fructose metabolism
Disease timeline:
New recruiting trial: Dietary Fructose: a Metabolic Switch in Pediatric Obesity-related Disease.
A new clinical trial is recruiting patients for Disorder of fructose metabolism
New recruiting trial: Fructose is a Metabolic and Inflammatory Pathogenic Factor in Metabolic Dysfunction-associated Steatohepatitis (MASH)
A new clinical trial is recruiting patients for Disorder of fructose metabolism
New recruiting trial: High Fructose Diet, the Gut Microbiome, and Metabolic Health
A new clinical trial is recruiting patients for Disorder of fructose metabolism
Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific type of fructose metabolism disorder does my child have, and what gene is affected?,Can you refer us to a metabolic dietitian who specializes in this condition?,What foods, drinks, and medications must we strictly avoid?,What should we do if my child accidentally eats something containing fructose?,How often should liver and kidney function be monitored?,Should other family members be tested for this condition or carrier status?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disorder of fructose metabolism
What is Disorder of fructose metabolism?
Disorder of fructose metabolism is a group of inherited conditions where the body cannot properly break down fructose, a type of sugar found in fruits, table sugar, honey, and many processed foods. This group includes three main conditions: essential fructosuria (a harmless condition), hereditary fructose intolerance (HFI), and fructose-1,6-bisphosphatase deficiency. The most well-known and clinically significant form is hereditary fructose intolerance, caused by a deficiency of the enzyme aldolase B in the liver. When a person with HFI eats foods containing fructose, sorbitol, or sucrose, tox
How is Disorder of fructose metabolism inherited?
Disorder of fructose metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of fructose metabolism typically begin?
Typical onset of Disorder of fructose metabolism is infantile. Age of onset can vary across affected individuals.
Which specialists treat Disorder of fructose metabolism?
25 specialists and care centers treating Disorder of fructose metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.