Learn About Hereditary Fructose Intolerance

What is the definition of Hereditary Fructose Intolerance?

Hereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that naturally occurs in the body. Man-made fructose is used as a sweetener in many foods, including baby food and drinks.

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What are the alternative names for Hereditary Fructose Intolerance?

Fructosemia; Fructose intolerance; Fructose aldolase B-deficiency; Fructose-1, 6-bisphosphate aldolase deficiency

What are the causes of Hereditary Fructose Intolerance?

This condition occurs when the body is missing an enzyme called aldolase B. This substance is needed to break down fructose.

If a person without this substance eats fructose or sucrose (cane or beet sugar, table sugar), complicated chemical changes occur in the body. The body cannot change its stored form of sugar (glycogen) into glucose. As a result, blood sugar falls and dangerous substances build up in the liver.

Hereditary fructose intolerance is inherited, which means it can be passed down through families. If both parents carry a nonworking copy of the aldolase B gene, each of their children has a 25% (1 in 4) chance of being affected.

What are the symptoms of Hereditary Fructose Intolerance?

Symptoms can be seen after a baby starts eating food or formula.

The early symptoms of fructose intolerance are similar to those of galactosemia (inability to use the sugar galactose). Later symptoms relate more to liver disease.

Symptoms may include:

  • Convulsions
  • Excessive sleepiness
  • Irritability
  • Yellow skin or whites of the eyes (jaundice)
  • Poor feeding and growth as a baby, failure to thrive
  • Problems after eating fruits and other foods that contain fructose or sucrose
  • Vomiting
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What are the current treatments for Hereditary Fructose Intolerance?

Removing fructose and sucrose from the diet is an effective treatment for most people. Complications may be treated. For example, some people can take a medicine to lower the level of uric acid in their blood and decrease their risk for gout.

Who are the top Hereditary Fructose Intolerance Local Doctors?
Elite
Highly rated in
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Gastroenterology Group Practice

Brain Gut Research Group 
Bern, BE, CH 

Clive Smith-Wilder is in Bern, Switzerland. Smith-Wilder is rated as an Elite expert by MediFind in the treatment of Hereditary Fructose Intolerance. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Hereditary Fructose Intolerance, Lactose Intolerance, Indigestion, and Malabsorption.

Elite
Highly rated in
2
conditions

Gastroenterology Group Practice

Brain Gut Research Group 
Bern, BE, CH 

Andrea Materna is in Bern, Switzerland. Materna is rated as an Elite expert by MediFind in the treatment of Hereditary Fructose Intolerance. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Hereditary Fructose Intolerance, Lactose Intolerance, Indigestion, and Malabsorption.

 
 
 
 
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Elite
Highly rated in
5
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General Internal Medicine Practice

Bruck An Der Leitha, AT 8600

Wolfgang Schnedl is in Bruck An Der Leitha, Austria. Schnedl is rated as an Elite expert by MediFind in the treatment of Hereditary Fructose Intolerance. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Hereditary Fructose Intolerance, Lactose Intolerance, Malabsorption, and Agenesis of the Dorsal Pancreas.

What is the outlook (prognosis) for Hereditary Fructose Intolerance?

Hereditary fructose intolerance may be mild or severe.

Avoiding fructose and sucrose helps most children with this condition. The prognosis is good in most cases.

A few children with a severe form of the disease will develop severe liver disease. Even removing fructose and sucrose from the diet may not prevent severe liver disease in these children.

How well a person does depends on:

  • How soon the diagnosis is made
  • How soon fructose and sucrose can be removed from the diet
  • How well the enzyme works in the body
What are the possible complications of Hereditary Fructose Intolerance?

These complications may occur:

  • Avoidance of fructose-containing foods due to their effects
  • Bleeding
  • Gout
  • Illness from eating foods containing fructose or sucrose
  • Liver failure
  • Low blood sugar (hypoglycemia)
  • Seizures
  • Death
When should I contact a medical professional for Hereditary Fructose Intolerance?

Call your health care provider if your child develops symptoms of this condition after feeding starts. If your child has this condition, experts recommend seeing a doctor who specializes in biochemical genetics or metabolism.

How do I prevent Hereditary Fructose Intolerance?

Couples with a family history of fructose intolerance who wish to have a baby may consider genetic counseling.

Most of the damaging effects of the disease can be prevented by decreasing fructose and sucrose intake.

What are the latest Hereditary Fructose Intolerance Clinical Trials?
Fructose and Lactose Intolerance and Malabsorption: the Relationship Between Metabolism and Symptoms in Functional Gastrointestinal Disorders
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What are the Latest Advances for Hereditary Fructose Intolerance?
Theories behind the effect of starch‑ and sucrose‑reduced diets on gastrointestinal symptoms in irritable bowel syndrome (Review).
Fructose malabsorption in asymptomatic children and in patients with functional chronic abdominal pain: a prospective comparative study.
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Who are the sources who wrote this article ?

Published Date : May 02, 2021
Published By : Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.

Kishnani PS, Chen Y-T. Defects in metabolism of carbohydrates. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 105.

Mojica A, Weinstock RS. Carbohydrates. In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods. 24th ed. Elsevier; 2022:chap 17.

Scheinman SJ. Genetically based kidney transport disorders. In: Gilbert SJ, Weiner DE, eds. National Kidney Foundation's Primer on Kidney Disease. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 38.