About Hereditary Fructose Intolerance
Hereditary fructose intolerance (HFI) is caused by deficiency of aldolase B, which catalyzes the second step of fructose metabolism in the liver. Ingestion of fructose, sucrose, or sorbitol causes rapid accumulation of fructose-1-phosphate, which is toxic to hepatocytes and renal tubular cells, causing hypoglycemia, vomiting, and progressive liver failure. Strict avoidance of fructose is curative for acute symptoms, but diagnosis is often delayed.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Hereditary Fructose Intolerance trials.
ALDOB genotype confirmation is now preferred over fructose challenge testing, which carries hepatotoxicity risk
Liver function tests and renal tubular function markers are standard baseline measures
Strict dietary exclusion of fructose, sucrose, and sorbitol is standard care — trial participants must maintain this exclusion
Natural history studies are the primary research avenue; gene therapy and mRNA approaches are in preclinical development
Patient Resources
Find recruiting Hereditary Fructose Intolerance trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Hereditary Fructose Intolerance. Updated daily.