Hereditary fructose intolerance

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Hereditary fructose intolerance

Alternative Names:

Fructosemia; Fructose intolerance; Fructose aldolase B-deficiency
Symptoms:

Onset of symptoms after starting an infant on food or formula
Poor feeding as a baby
Irritability
Increased or prolonged neonatal jaundice
Vomiting
Convulsions
Excessive sleepiness
Intolerance for fruits
Avoidance of fruits and fructose/sucrose-containing foods
Doing well after eating foods without fructose/sucrose

The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease.
Signs and tests:

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Physical examination may also show:

Jaundice (yellow skin) or icterus (yellow eyes)
Hepatosplenomegaly (enlarged liver and spleen)

Tests that confirm the diagnosis include:

Positive urine test for reducing substances
Hypoglycemia (low blood sugar), especially after receiving fructose/sucrose
Excess uric acid in blood (hyperuricemia)
Failure of the kidney to work properly with abnormally high amounts of sugars, amino acids and salts appearing in urine
Liver failure shown with blood test
Bleeding tendency revealed by coagulation tests of blood
Liver biopsy
Enzyme studies

Genetic testing for fructose intolerance may be available.