Hereditary fructose intolerance

Alternative Names

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

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.

Causes, incidence, and risk factors

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

Symptoms

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

Signs and tests

Physical examination may show:

Treatment

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

Expectations (prognosis)

Hereditary fructose intolerance may be mild or severe.

Review

Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 4/15/2009

ADAM Medical Encyclopedia

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