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Disease Profile
Hereditary fructose intolerance
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
E74.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Fructose-1-phosphate aldolase deficiency; ALDOB deficiency; Aldolase B deficiency;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases;
Summary
Hereditary fructose intolerance (HFI) is a
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]
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.
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 |
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 |
Low blood sugar after a meal
|
0012051 |
Vomiting |
Throwing up
|
0002013 |
1%-4% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Coma | 0001259 | |
Lethargy | 0001254 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
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 |
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 |
Cause
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
https://www.bu.edu/aldolase/HFI/treatment/
Additional information on foods to avoid if you have HFI is available from the Mayo clinic.
https://www.mayoclinic.com/health/fructose-intolerance/AN01574
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.
|
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: [email protected]
Website: https://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
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.
References
- Haldeman-Englert C. Hereditary fructose intolerance. Medline Plus. May 2, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000359.htm. Accessed 8/20/2015.
- Hereditary fructose intolerance. Genetics Home Reference. June 2011; https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance. Accessed 8/20/2015.
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