Galactose is a sugar that is part of the
lactose found in milk and milk products. A galactosemia test is a blood or
urine test that checks for
enzymes that are needed to change galactose into
glucose, a sugar that your body uses for energy. A person with
galactosemia doesn't have one of these enzymes, so
high levels of galactose build up in the blood or urine.
galactose builds up in a baby's blood, it can cause liver damage, problems with eating, and
intellectual disabilities. The damage caused by galactosemia can begin within
weeks after the baby has started drinking breast milk or formula. Babies with
galactosemia need foods low in galactose in order to gain weight and to prevent
brain damage, liver problems, infection, and
Galactosemia is a rare
disease that is passed from parents to children (inherited genetic disorder). A galactosemia test is usually done to determine whether a
newborn has the disease. In a family with a member who has galactosemia, a
genetic test can be done on adults to find out whether they have an increased
chance of having a child with the disease.
Why It Is Done
A galactosemia test is done to:
- Find out whether a newborn has the enzymes
needed to change galactose into glucose.
- See whether diet changes are working for a child who has galactosemia.
How To Prepare
You do not need to do anything before you have this test.
Talk to your doctor about any concerns
you have about the need for the test, its risks, how it will be done, or what
the results will mean. To help you understand the importance of this test, fill
medical test information form(What is a PDF document?).
How It Is Done
Tests for galactosemia are done on a
blood or urine sample.
Blood sample from a heel stick
testing is done on a baby, a heel stick will be done instead of a blood draw
from a vein. For a heel stick blood sample, several drops of blood are
collected from the heel of the baby. The skin of the heel is cleaned with
alcohol and then punctured with a sterile lancet. Several drops of blood are
collected inside circles on a specially prepared piece of paper. When enough
blood has been collected, a gauze pad or cotton ball is placed over the
puncture site. Pressure is maintained on the puncture site briefly to stop the
bleeding, and then a small bandage is usually applied. A blood sample is
usually collected within 2 to 3 days after birth.
If the test
shows that the baby has galactosemia, the results will be confirmed on a blood
sample taken from a vein.
Blood sample from a vein