Hereditary fructose intolerance

Title

Other Names:

Fructose-1-phosphate aldolase deficiency; ALDOB deficiency; Aldolase B deficiency; Fructose-1-phosphate aldolase deficiency; ALDOB deficiency; Aldolase B deficiency; Fructose-1,6-bisphosphate aldolase B deficiency; Fructose intolerance, hereditary See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases; Metabolic disorders See More

Summary Summary

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

Symptoms Symptoms

The symptoms of HFI include:^[1]

Poor feeding as a baby
Irritability
Increased or prolonged neonatal jaundice
Vomiting
Convulsions
Excessive sleepiness
Intolerance for fruits
Avoidance of fruits and fructose/sucrose-containing foods
Doing well after eating foods without fructose/sucrose

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.^[1]

Last updated: 8/20/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abdominal pain	-
Autosomal recessive inheritance	-
Bicarbonaturia	-
Cirrhosis	-
Coma	-
Elevated hepatic transaminases	-
Failure to thrive	-
Fructose intolerance	-
Gastrointestinal hemorrhage	-
Glycosuria	-
Hepatic steatosis	-
Hepatomegaly	-
Hyperbilirubinemia	-
Hyperphosphaturia	-
Hyperuricemia	-
Hyperuricosuria	-
Hypoglycemia	-
Hypophosphatemia	-
Intellectual disability	-
Jaundice	-
Lactic acidosis	-
Lethargy	-
Malnutrition	-
Metabolic acidosis	-
Nausea	-
Proximal renal tubular acidosis	-
Proximal tubulopathy	-
Seizures	-
Transient aminoaciduria	-
Vomiting	-

Last updated: 9/1/2016

Cause Cause

HFI is caused by alterations (mutations) in the ALDOB gene.^[2] 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.^[2]

Last updated: 8/20/2015

Inheritance Inheritance

HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene.^[1]^[2] 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.^[2]

Last updated: 8/21/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The HFI Laboratory at Boston University provides information on the diagnosis of hereditary fructose intolerance.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

Complete elimination of fructose and sucrose from the diet is an effective treatment for most people,^[1] 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: 8/21/2015

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Hereditary fructose intolerance. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
More information on research for hereditary fructose intolerance is available from the HFI Laboratory at Boston University.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: contact@climb.org.uk
Website: http://www.climb.org.uk
Genetic Metabolic Dietitians International
P.O. Box 33985
Fort Worth, TX 76162
Website: http://www.gmdi.org/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have spent hours looking for information about a fructose/sucrose free diet. Everything I have discovered tells you what you can't eat but not much regarding what is permissible. Can you send me a link, diet outline, or any information concerning hereditary fructose intolerance? See answer
My grandson has been diagnosed with hereditary fructose intolerance. The family has not been able to see a dietician, and they are having a hard time finding good recipes. Please give me some info so I can help them. See answer

References References

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.
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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