Galactosemia Test

GALT (Galactose-1-Phosphate Uridyltransferse)

What To Think About

• Early detection and treatment of galactosemia is very important because the disease can cause brain damage, liver failure, and cataracts if it is not treated. Within 24 hours of drinking breast milk or formula, galactose blood levels in a baby with galactosemia start to rise. A galactosemia test 2 to 3 days after birth will indicate whether your baby has galactosemia. Almost all states in the United States have laws that require galactosemia testing of newborns within a few days of birth.
• If your baby's test is positive, the test will be repeated to confirm the diagnosis.
• If test results confirm that your baby has galactosemia, ask to speak to a dietitian. A substitute for breast milk or milk-based formula, such as formula made from soybeans or meat, will prevent damage caused by galactosemia. It will never be safe to give milk or milk products to a child who has galactosemia.
• If you or your partner knows that you are a carrier of galactosemia or if you have family members with galactosemia, you may want to have genetic counseling to learn about the disease and the likelihood of passing it to your children. For more information, see the medical Genetic Test.

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Author:	Maria G. Essig, MS, ELS	Last Updated: April 20, 2009
Medical Review:	Joy Melnikow, MD, MPH - Family Medicine Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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