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Don’t fight Hereditary fructose intolerance alone.
Find your community on the free RareGuru App.Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.
Source: GARD Last updated on 05-01-20
The symptoms of HFI include:
The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease.
Last updated on 05-01-20
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
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
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.
http://www.bu.edu/aldolase/HFI/treatment/
Additional information on foods to avoid if you have HFI is available from the
Mayo clinic.
http://www.mayoclinic.com/health/fructose-intolerance/AN01574
Last updated on 05-01-20
The HFI Laboratory at Boston University provides information on the diagnosis of hereditary fructose intolerance.
Last updated on 04-27-20
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