Galactosemia

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.

  • 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.

  • 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.

  • 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.

  • 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

  • Treatment

    Galactosemia cannot be cured. Steps can be taken to prevent or minimize symptoms and complications.