Encyclopedia Home / H / Hereditary fructose intolerance

Hereditary fructose intolerance

  • Alternative Names

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


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

    The early symptoms of fructose intolerance are similar to those of galactosemia. Later symptoms relate more to liver disease.

    Symptoms may include:

    • Convulsions
    • Excessive sleepiness
    • Irritability
    • Jaundice
    • Poor feeding as a baby
    • Problems after eating fruits and fructose/sucrose-containing foods
    • Vomiting

    Signs and tests

    Physical examination may show:

    • Enlarged liver and spleen (hepatosplenomegaly)
    • Yellow skin or eyes

    Tests that confirm the diagnosis include:

    • Blood clotting tests
    • Blood sugar test
    • Enzyme studies
    • Genetic testing
    • Kidney function tests
    • Liver function tests
    • Liver biopsy
    • Uric acid blood test
    • Urinalysis

    Blood sugar will be low, especially after receiving fructose or sucrose. Uric acid levels will be high.