Hereditary fructose intolerance

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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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 42 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Reduced aldolase level		0012545
30%-79% of people have these symptoms
Diarrhea	Watery stool	0002014
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Nausea		0002018
5%-29% of people have these symptoms
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Abnormality of the coagulation cascade		0003256
Chronic hepatic failure	Chronic liver failure	0100626
Chronic kidney disease		0012622
Constipation		0002019
Episodic hyperhidrosis	Sporadic excessive sweating	0001069
Hepatomegaly	Enlarged liver	0002240
Hypermagnesemia	High blood magnesium levels	0002918
Hyperuricemia	High blood uric acid level	0002149
Hypophosphatemia	Low blood phosphate level	0002148
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Metabolic acidosis		0001942
Reactive hypoglycemia	Low blood sugar after a meal	0012051
Vomiting	Throwing up	0002013
1%-4% of people have these symptoms
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Coma		0001259
Lethargy		0001254
Seizure		0001250
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Bicarbonaturia		0003646
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Elevated hepatic transaminase	High liver enzymes	0002910
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Fructose intolerance		0005973
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Glycosuria	Glucose in urine	0003076
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hyperbilirubinemia	High blood bilirubin levels	0002904
Hyperphosphaturia	High urine phosphate levels	0003109
Hyperuricosuria	High urine uric acid level	0003149
Hypoglycemia	Low blood sugar	0001943
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lactic acidosis	Increased lactate in body	0003128
Malnutrition		0004395
Proximal renal tubular acidosis		0002049
Proximal tubulopathy		0000114
Transient aminoaciduria		0008273

Showing of 42 |

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Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include pyloric stenosis, gastro-esophageal reflux,galactosemia, tyrosinemia, glycogen storage disease, ornithine transcarbamoylase deficiency, Wilson disease, tumor of hematopoietic and lymphoid tissue (see these terms) and fructose malabsorption. Visit the Orphanet disease page for more information.

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 related to Hereditary fructose intolerance. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
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

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Genetic Metabolic Dietitians International
P.O. Box 1462
Hillsborough, NC 27278
E-mail: info@gdmi.org
Website: http://www.gmdi.org/
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org

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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

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.
Genetics Home Reference (GHR) contains information on Hereditary fructose intolerance. This website is maintained by the National Library of Medicine.
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

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.

Have a question? Contact a GARD Information Specialist.

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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