Hereditary fructose intolerance

Common Name(s)

Hereditary fructose intolerance

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary fructose intolerance" for support, advocacy or research.

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CSID Parent Support Group

We provide up to date information and support for those who have been diagnosed with Congenital Sucrase-Isomaltase Deficiency (CSID), caretakers of children with CSID, and physicians and dieticians who need information on CSID.

http://www.csidinfo.com

Last Updated: 14 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary fructose intolerance" for support, advocacy or research.

Logo
CSID Parent Support Group

We provide up to date information and support for those who have been diagnosed with Congenital Sucrase-Isomaltase Deficiency (CSID), caretakers of children with CSID, and physicians and dieticians who need information on CSID.

http://www.csidinfo.com

Last Updated: 14 May 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary fructose intolerance" returned 31 free, full-text research articles on human participants. First 3 results:

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.
 

Author(s): Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito, Pietro Vajro

Journal:

 

We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with "cryptogenic" hypertransaminasemia.

Last Updated: 20 Nov 2012

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Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
 

Author(s): Erin M Coffee, Dean R Tolan

Journal: J. Inherit. Metab. Dis.. 2010 Dec;33(6):715-25.

 

Hereditary fructose intolerance (HFI) is a potentially fatal inherited metabolic disease caused by a deficiency of aldolase B activity in the liver and kidney. Over 40 disease-causing mutations are known in the protein-coding region of ALDOB. Mutations upstream of the protein-coding ...

Last Updated: 29 Nov 2010

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Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
 

Author(s): Erin M Coffee, Laura Yerkes, Elizabeth P Ewen, Tiffany Zee, Dean R Tolan

Journal: J. Inherit. Metab. Dis.. 2010 Feb;33(1):33-42.

 

Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant ...

Last Updated: 25 Feb 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary fructose intolerance" returned 2 free, full-text review articles on human participants. First 3 results:

[Hereditary fructose intolerance].
 

Author(s): A I Lopes, A G Almeida, A E Costa, A Costa, M Leite

Journal: Acta Med Port. 1998 Dec;11(12):1121-5.

 

Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. ...

Last Updated: 30 Apr 1999

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Hereditary fructose intolerance.
 

Author(s): M Ali, P Rellos, T M Cox

Journal: J. Med. Genet.. 1998 May;35(5):353-65.

 

Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods ...

Last Updated: 29 Jul 1998

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigation of Alanine in Fructose Intolerance: A Dose Ranging Study
 

Status: Recruiting

Condition Summary: Fructose Intolerance

 

Last Updated: 7 Mar 2011

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Long Term Fructose
 

Status: Recruiting

Condition Summary: Fructose Malabsorption

 

Last Updated: 31 Jan 2011

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