Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Fructose-1-phosphate aldolase deficiency
  • ALDOB deficiency
  • Aldolase B deficiency
  • Fructose-1,6-bisphosphate aldolase B deficiency
  • Fructose intolerance, hereditary
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Home > Genetic & Rare Diseases Information Center (GARD) > Hereditary fructose intolerance



Hereditary fructose intolerance
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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 progressive liver damage. In addition, blocked processing of fructose will cause a build-up of substances that damage the liver. HFI may be relatively mild or a very severe disease, and 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]

References
  1. Kirmse B. Hereditary fructose intolerance. Medline Plus Web site. May 2, 2007 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000359.htm. Accessed March 17, 2009.

Questions & Answers (Found 2 Questions)
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More Detailed Information (Found 7 resources)
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  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The Mayo Clinic provides additional information on foods to avoid if you have hereditary fructose intolerance.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary fructose intolerance. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • 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.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
 Umbrella Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 5 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • More information on research for hereditary fructose intolerance is available from the HFI Laboratory at Boston University.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.

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