The symptoms of HFI include:[1]
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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
| 0000007 | ||
| Bicarbonaturia | 0003646 | |
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Coma | 0001259 | |
| 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 | 0003076 | |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
| Hyperphosphaturia |
High urine phosphate levels
|
0003109 |
| Hyperuricemia |
High blood uric acid level
|
0002149 |
| Hyperuricosuria |
High urine uric acid level
|
0003149 |
|
Low blood sugar
|
0001943 | |
| Hypophosphatemia |
Low blood phosphate level
|
0002148 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Jaundice |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 |
| Lactic acidosis | 0003128 | |
| Lethargy | 0001254 | |
| Malnutrition | 0004395 | |
| Metabolic acidosis | 0001942 | |
| Nausea | 0002018 | |
| Proximal renal tubular acidosis | 0002049 | |
| Proximal tubulopathy | 0000114 | |
|
Seizure
|
0001250 | |
| Transient aminoaciduria | 0008273 | |
| Vomiting |
Throwing up
|
0002013 |
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.
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.
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 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.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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
