Hereditary Fructose Intolerance Overview
Learn About 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.
Fructosemia; Fructose intolerance; Fructose aldolase B-deficiency; Fructose-1, 6-bisphosphate aldolase deficiency
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.
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
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.
University Physicians Incorporated
Shawn Mccandless is a Medical Genetics specialist and a Pediatrics provider in Aurora, Colorado. Dr. Mccandless and is rated as an Experienced provider by MediFind in the treatment of Hereditary Fructose Intolerance. His top areas of expertise are Urea Cycle Disorders (UCD), Prader-Willi Syndrome, Pyruvate Decarboxylase Deficiency, and Pyruvate Dehydrogenase Deficiency. Dr. Mccandless is currently accepting new patients.
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
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
Contact 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.
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.
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Published Date: April 24, 2023
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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