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:
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.
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.
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.
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.
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:
These complications may occur:
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.
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.
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.
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