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Living with Hereditary fructosuria

A condition in which the body cannot digest the sugar fructose, causing stomach upset and low blood sugar.

Understanding Hereditary fructosuria

Hereditary fructosuria, described by GARD as hereditary fructose intolerance, is a condition that affects the body's ability to digest the sugar fructose.

Fructose is a simple sugar found mostly in fruit. Symptoms start in infancy when fruits, juices, or other foods with fructose are first introduced. Repeated fructose can lead to liver and kidney damage. Many people come to dislike fruits and juices. GARD says it should not be confused with fructose malabsorption.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Belly pain
  • Nausea and vomiting
  • Bloating
  • Diarrhea
  • Low blood sugar (hypoglycemia)
  • Slow growth and weight gain

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include digestive system specialists, genetic specialists and kidney specialists.

  3. Consider genetic testing

    Changes in ALDOB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

Care & treatment

Care team
Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with National Kidney Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Could genetic testing for the ALDOB gene confirm the diagnosis?
Which foods and sugars should we ask a dietitian about?
How often should the liver and kidneys be checked?

Quick facts

Symptoms usually startany time in life
InheritanceAutosomal Recessive
GenesALDOB

It is caused by changes in the ALDOB gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

GeneticKidneyGastrointestinalInherited Metabolic

Also known as: aldb - aldolase b deficiency; aldb deficiency; aldob deficiency; aldolase b deficiency; fructosaemia; fructose intolerance

Patient organizations

Source: NIH GARD · Hereditary fructosuriaGARD ID 6622 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Hereditary fructosuria.

Explore the Hereditary fructosuria blog

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Explore actively recruiting Hereditary fructosuria studies with HealthSpark.

HealthSpark

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