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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: Text Continues Below 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.

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