Galactosemia Test

Test Overview

A galactosemia test is a blood or urine test that checks for three enzymes that are needed to change galactose—a sugar that is found in milk and milk products—into glucose, a sugar that your body uses for energy. A person with galactosemia doesn't have one of these enzymes. This causes high levels of galactose in the blood or urine.

When galactose builds up in a baby's blood, it can cause brain damage, seizures, and mental retardation. 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 cataracts.

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. A genetic test is done on adults to determine whether they have an increased chance of having a child with the disease.

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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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