Metabolic

Hereditary Fructose Intolerance

Also known as HFI, aldolase B deficiency, ALDOB deficiency, fructose-1

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,

ORPHA:469 ↗Gene ALDOBPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic

0

studies recruiting now

as of 7 Sept 2026

16

studies registered in total

as of 7 Sept 2026

0

countries with a recruiting site

as of 7 Sept 2026

None

recruiting study posted to date

among recruiting studies

Recruiting trials

No recruiting trial found right now.

16 studies are registered for Hereditary Fructose Intolerance, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.

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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

Postprandial hypoglycemiaVomiting after fructose ingestionHepatomegalyJaundiceRenal tubular acidosisGrowth retardationAversion to sweet foods

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Before you apply

Things trial teams commonly ask about for Hereditary Fructose Intolerance. Not eligibility rules; those are set by each study.

  • 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

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).