Hereditary fructose intolerance

What causes hereditary fructose intolerance (HFI)?

HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time.

Last updated on 05-01-20

How is hereditary fructose intolerance (HFI) inherited?

HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition.

Last updated on 05-01-20

How is hereditary fructose intolerance (HFI) treated?

Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat.

Additional information on foods to avoid if you have HFI is available from the Mayo clinic.

Last updated on 05-01-20

Testing Resources

HFI Laboratory at Boston University

The HFI Laboratory at Boston University provides information on the diagnosis of hereditary fructose intolerance.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Genetic Metabolic Dietitians International P.O. Box 1462
Hillsborough, NC, 27278, United States
Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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