Inborn errors of metabolism
An inherited problem with using sugar. The body cannot process fructose, the sugar found in fruit. Foods containing fructose cause vomiting and low blood sugar.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, English). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
Fructose is a sugar found in fruit and in table sugar. The liver breaks it down with an enzyme called aldolase B. In this disease, the enzyme does not work well enough. When fructose is eaten, a harmful substance builds up in the liver. Blood sugar also drops.
Symptoms usually appear when a baby starts having fruit, fruit juice or sweetened foods.
The doctor looks at the symptoms and the eating history. Today, the diagnosis is usually made with a genetic test on a blood sample. The loading tests used in the past are risky.
The main treatment is a diet that avoids fructose. This diet is planned with a dietitian. If the diagnosis is made early and the diet is followed, people can lead a normal life. Early diagnosis helps prevent liver and kidney damage. The doctor does regular check-ups. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. In marriages between relatives, the chance of carrying the same gene is higher. Genetic counselling is recommended for the family.
Source: MedlinePlus Genetics: Hereditary fructose intolerance · NORD: Fructose Intolerance, Hereditary · Orphanet: Hereditary fructose intolerance (ORPHA:469)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeDiagnosis and screening
At Ankara Etlik City Hospital, 9 patients with hereditary fructose intolerance were studied.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
EUNew treatments and approvals
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:469 · ICD-11 5C51.50
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.