Galactosemia Test

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. Requirements for galactosemia testing of newborns vary from province to province.
  • 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 milk and 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 counselling 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: Douglas Dana
Maria G. Essig, MS, ELS
Last Updated: July 10, 2007
Medical Review: Joy Melnikow, MD, MPH - Family Medicine
Anne C. Poinier, MD - Internal Medicine
Renee H. Martin, PhD - Medical Genetics

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Topic Contents
 Test Overview
 Why It Is Done
 How To Prepare
 How It Is Done
 How It Feels
 Risks
 Results
 What Affects the Test
Arrow PointerWhat To Think About
 References
 Credits