Please be patient! It may take up to ONE minute to load all the Engines.
Problems? Please contact our support.
Hereditary fructose intolerance
Alternative namesHereditary fructose intolerance is a metabolic disease caused by the absence of an enzyme , 1-phosphofructaldolase.
Causes, incidence, and risk factors
Fructose is a naturally-occuring fruit sugar. Man-made fructose is used as a sweetener in many foods (including baby food) and drinks. Hereditary fructose intolerance is an autosomal recessive disease. It may be as common as 1 in 20,000 in some European countries.
In fructose-intolerant people, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) produces complicated chemical changes that cannot be corrected because of the absence of the enzyme 1-phosphofructaldolase. Ingestion of fructose causes profound hypoglycemia (low blood sugar) and progressive liver damage. The body is unable to convert its energy storage material, glycogen, into glucose. Subsequently, the blood sugar falls (hypoglycemia). In addition, blocks in the metabolic pathway of fructose processing cause a build-up of substances that damage the liver.
Signs and testsPhysical examination may also show:
Genetic testing for fructose intolerance may be available
TreatmentComplete elimination of fructose and sucrose from the diet is an effective treatment for most patients. Treatment of individual complications follows mainstream medical guidelines. For example, some patients can take medication to lower the level of uric acid in their blood and thereby decrease their risk for gout.
Expectations (prognosis)Absolute elimination of fructose and glucose produces good results in most children with fructose intolerance. A few children will go on to develop progressive liver disease. The prognosis depends on how soon the diagnosis is made and how soon fructose and sucrose can be eliminated from the baby's diet.
Calling your health care provider
Call your health care provider if your child has developed the above symptoms after you began feeding the child formula or solid food. The care of a medical specialist in Biochemical Genetics or Metabolism is strongly recommended if your child has this disorder.
Preliminary evidence suggests that parents of a child with this disorder (as well as other carriers of the mutant gene) may be at increased risk for gout (arthritis caused by excess uric acid in the body and uric acid crystals in the joints). Therefore, it is important to notify your physician if you have a family history of hereditary fructose intolerance.
PreventionGenetic counseling may be of value to prospective parents with a family history of fructose intolerance. Most of the damaging effects of the disease can be prevented by strict adherence to a fructose-free diet.
Update Date: 8/19/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT