Galactosemia

  • Definition

    Classic galactosemia type I is a metabolic disorder. It causes a low level or lack of an enzyme called galactose-1-phosphate uridyltransferase. This enzyme changes galactose to glucose. Galactose is a simple sugar found in milk products. Glucose is the usable form of sugar in the human body.
    Since there is not enough of the enzyme, galactose builds up in the blood. This build up can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, galactosemia is fatal.
    Type II is a less severe form of this disease due to low levels of galactose kinase. This type may be managed with a few dietary restrictions. It does not carry the risk of neurologic or liver damage. This sheet will focus on classic galactosemia.
    Type III is a form with variable severity due to low levels of galactose epimerase. This type can cause cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
  • Causes

    Galactosemia is a genetic condition. It is caused by faulty genes that are inherited from both parents. A normal copy of these genes is needed to make the enzyme correctly.
  • Risk Factors

    The primary risk factor is having parents who carry the gene for galactosemia.
  • Symptoms

    An infant with classic galactosemia usually appears normal at birth. Symptoms usually occur within the first few days or weeks of life after the baby drinks breastmilk or a lactose-containing formula.
    Early symptoms may include:
    • Yellowing of the skin and whites of the eyes
    • Vomiting
    • Poor weight gain
    • Feeding difficulties
    • Irritability
    • Convulsions
    If left untreated, later symptoms and complications may include:
    • Opaque lenses of the eyes known as cataracts
    • Enlarged liver, enlarged spleen
    • Intellectual disability
    • Sepsis caused by a specific bacteria
    • Scarring of the liver known as cirrhosis
    • Liver failure
    • Kidney problems
    • Swelling of the extremities or abdomen
    If dietary restrictions are started right away, it may be possible to prevent acute toxicity. However, long-term complications may still occur. These may include:
    • Poor growth
    • Learning disabilities
    • Speech and language problems
    • Fine and gross motor skill delays
    • Ovarian failure
    • Cataracts—usually regress with dietary treatment, leaving no remaining visual impairment
    • Decreased bone mineral density
  • Diagnosis

    Most United States infants are screened for galactosemia at birth. A small sample of blood is taken with a heel prick. It is also possible to diagnose galactosemia during pregnancy with an amniocentesis. This test is only done if the baby is at high risk for an illness or condition.
    Amniocentesis
    Amniocentesis
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    Your doctor may also suspect galactosemia after a urine test. The diagnosis can be confirmed with a blood test, including enzyme levels, or with a biopsy of the liver or other tissues.
  • Treatment

    Galactosemia cannot be cured. Steps can be taken to prevent or minimize symptoms and complications.
    Diet
    Avoid all products that contain or produce galactose. This includes milk or milk by-products, such as:
    • Formula
    • Breast milk
    • Milk
    • Casein
    • Lactose—milk sugar
    • Dry milk solids
    • Curds
    • Whey
    Galactose can also be found in some non-milk products, such as:
    • Fermented soy products
    • Legumes
    • Organ meats
    • Tomato sauces
    Lactose or galactose may be used as an additive in some food products. Therefore, always read food labels carefully in order to avoid these foods. A dietitian with a specialty in galactosemia can help make a dietary plan.
    Medications
    Certain medications have galactose or lactose fillers. Check with your pharmacist before using medications.
    Supplements
    Avoid supplements unless prescribed by your doctor. Fillers and inactive ingredients, like galactose are not required to be listed in supplements. If you do take a supplement, ask your pharmacist if there is galactose or lactose in the product.
  • Prevention

    There is no known way to prevent galactosemia. You may consider genetic counseling if you have galactosemia or have a family history of the disorder. The counselor can help you determine the risk of passing the condition to your children.
  • RESOURCES

    American Liver Foundation. http://www.liverfoundation.org

    Parents of Galactosemic Children, Inc. http://www.galactosemia.org

    CANADIAN RESOURCES

    Save Babies Through Screening Foundation http://www.savebabies.org

    Sick Kids http://www.sickkids.ca

    References

    Galactosemia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/galactosemia. Published August 12, 2013. Accessed August 14, 2013.

    Inborn errors of metabolism—work in progress. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated March 28, 2012. Accessed August 14, 2013.

    Understanding galactosemia. Galactosemia Foundation website. Available at: http://galactosemia.org/Understanding%5FGalactosemia.php. Accessed August 14, 2013.

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