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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary fructose intolerance


Other Names for this Disease
  • Fructose-1-phosphate aldolase deficiency
  • ALDOB deficiency
  • Aldolase B deficiency
  • Fructose-1,6-bisphosphate aldolase B deficiency
  • Fructose intolerance, hereditary
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern.[2] 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.[1]
Last updated: 8/20/2015

References

  1. Haldeman-Englert C. Hereditary fructose intolerance. Medline Plus. May 2, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/000359.htm. Accessed 8/20/2015.
  2. Hereditary fructose intolerance. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance. Accessed 8/20/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary fructose intolerance. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic provides additional information on foods to avoid if you have hereditary fructose intolerance.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary fructose intolerance. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Fructose-1-phosphate aldolase deficiency
  • ALDOB deficiency
  • Aldolase B deficiency
  • Fructose-1,6-bisphosphate aldolase B deficiency
  • Fructose intolerance, hereditary
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.