hereditary fructose intolerance

Hereditary Fructose Intolerance 

Definition

Hereditary fructose intolerance is an inherited condition where the body does not produce the chemical needed to break down fructose (fruit sugar).

Description

Fructose is a sugar found naturally in fruits, vegetables, honey, and table sugar. Fructose intolerance is a disorder caused by the body's inability to produce an enzyme called aldolase B (also called fructose 1-phosphate aldolase) that is necessary for absorption of fructose. The undigested fructose collects in the liver and kidneys, eventually causing liver and kidney failure. One person in about 20,000 is born with this disorder. It is reported more frequently in the United States and Northern European countries than in other parts of the world. It occurs with equal frequency in males and females.

Causes and symptoms

Fructose intolerance is an inherited disorder passed on to children through their parents' genes. Both the mother and father have the gene that causes the condition, but may not have symptoms of fructose intolerance themselves. (This is called an autosomal recessive pattern of inheritance.) The disorder will not be apparent until the infant is fed formula, juice, fruits, or baby foods that contain fructose. Initial symptoms include vomiting, dehydration, and unexplained fever. Other symptoms include extreme thirst and excessive urination and sweating. There will also be a loss of appetite and a failure to grow. Tremors and seizures caused by low blood sugar can occur. The liver becomes swollen and the patient becomes jaundiced with yellowing of the eyes and skin. Left untreated, this condition can lead to coma and death.

Diagnosis

Urine tests can be used to detect fructose sugar in the urine. Blood tests can also be used to detect hyperbilirubinemia and high levels of liver enzymes in the blood. A liver biopsy may be performed to test for levels of enzymes present and to evaluate the extent of damage to the liver. A fructose-loading test where a dose of fructose is given to the patient in a well-controlled hospital or clinical setting may also be used to confirm fructose intolerance. Both the biopsy and the loading test can be very risky, particularly in infants that are already sick.

Treatment

Once diagnosed, fructose intolerance can be successfully treated by eliminating fructose from the diet. Patients usually respond within three to four weeks and can make a complete recovery if fructose-containing foods are avoided. Early recognition and treatment of the disease is important to avoid damage to the liver, kidneys, and small intestine.

Prognosis

If the condition is not recognized and the diet is not well controlled, death can occur in infants or young children. With a well-controlled diet, the child can develop normally.

Prevention

Carriers of the gene for hereditary fructose intolerance can be identified through DNA analysis. Anyone who is known to carry the disease or who has the disease in his or her family can benefit from genetic counseling. Since this is a hereditary disorder, there is currently no known way to prevent it other than assisting at-risk individuals with family planning and reproductive decisions.

Key terms

Aldolase B — Also called fructose 1-phosphate aldolase, this chemical is produced in the liver, kidneys, and brain. It is needed for the breakdown of fructose, a sugar found in fruits, vegetables, honey, and other sweeteners.

Hyperbilirubinemia — A condition where there is a high level of bilirubin in the blood. Bilirubin is a natural by-product of the breakdown of red blood cells, however, a high level of bilirubin may indicate a problem with the liver.

Liver biopsy — A surgical procedure where a small piece of the liver is cut out for examination. A needle or narrow tube may be inserted either directly through the skin and muscle or through a small incision and passed into the liver for collection of a sample of liver tissue.

Resources

Organizations

National Institutes of Health. National Institute of Diabetes, Digestive and Kidney Diseases. Building 31, Room 9A04, 31 Center Drive, Bethesda, MD 20892-2560. (301) 496-3583.

Other

"What Is Hereditary Fructose Intolerance?" Hereditary Fructose Intolerance & Aldolase Homepage. http://www.bu.edu/aldolase.

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intolerance /in·tol·er·ance/ (in-tol´er-ans) inability to withstand or consume; inability to absorb or metabolize nutrients.

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congenital lysine intolerance  an inherited disorder due to a defect in the degradation of lysine, characterized by vomiting, rigidity, and coma, and high levels of ammonia, lysine, and arginine in the blood.

congenital sucrose intolerance  a disaccharide intolerance specific for sucrase, usually due to a congenital defect in the sucrase-isomaltase enzyme complex; see sucrase-isomaltase deficiency.

disaccharide intolerance  a complex of abdominal symptoms after ingestion of normal quantities of dietary carbohydrates, including diarrhea, flatulence, distention, and pain; it is usually due to deficiency of one or more disaccharidases but may be due to impaired absorption or other causes.

drug intolerance 

1. inability to continue taking, or difficulty in continuing to take, a medication because of an adverse side effect that is not immunity-mediated.

2. the state of reacting to the normal pharmacologic doses of a drug with the symptoms of overdosage.

hereditary fructose intolerance  an inherited disorder of fructose metabolism due to an enzymatic deficiency, with onset in infancy, characterized by hypoglycemia with variable manifestations of fructosuria, fructosemia, anorexia, vomiting, failure to thrive, jaundice, splenomegaly, and an aversion to fructose-containing foods.

lactose intolerance  a disaccharide intolerance specific for lactose, usually due to an inherited deficiency of lactase activity in the intestinal mucosa, which may not be manifest until adulthood. Congenital lactose i. may be due to an inherited immediate deficiency of lactase activity or may be a more severe disorder with vomiting, dehydration, failure to thrive, disacchariduria, and cataracts, probably due to abnormal permeability of the gastric mucosa.

lysinuric protein intolerance  a hereditary disorder of metabolism involving a defect in dibasic amino acid transport; characterized by growth retardation, episodic hyperammonemia, seizures, mental retardation, hepatomegaly, muscle weakness, and osteopenia; it can be treated with citrulline supplementation.

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hereditary fructose intolerance.

See fructose intolerance.

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hereditary fructose intolerance

Aldolase B deficiency, fructosemia, fructose-1-phosphate aldolase deficiency Metabolic diseases An AR condition characterized by an aversion or intolerance for fructose-containing foods due to a defect in aldolase B Clinical Vomiting, hypoglycemia with weaning, and cirrhosis in childhood; in adults exposed to fructose later in life–GI bleeding, Fanconi syndrome, acute jaundice, proximal tubular acidosis, DIC. See Fructose.