Galactose-1-phosphate uridyltransferase blood test

A blood sample is needed.

When the needle is inserted to draw blood, some infants feel moderate pain. Others feel only a prick or stinging. Afterward, there may be slight bruising. This soon goes away.

This is a screening test for galactosemia. In normal diets, most galactose comes from the breakdown ( metabolism ) of lactose, which is found in milk and dairy products. One out of 65,000 newborns lack a substance (enzyme) called GALT. Without this substance, the body cannot break down galactose, and the substance…

The normal range is 18.5 to 28.5 U/g Hb (units per gram of hemoglobin ). Normal value ranges may vary slightly among different laboratories. Some labs use different measurements or may test different samples. Talk to your doctor about the meaning of your specific test results.

An abnormal result suggests galactosemia. Further tests must be done to confirm the diagnosis. If your child has galactosemia, a genetics specialist should be consulted promptly. The child should be put on a no-milk diet right away. This means no breast milk and no animal milk. Soy milk and infant soy formulas are…

There is little risk in taking blood from an infant. Veins and arteries vary in size from one infant to another and from one side of the body to the other. Obtaining a blood sample from some infants may be more difficult than from others. Other risks associated with having blood drawn are slight but may include:…

Chernecky CC, Berger BJ. Galactose-1-phosphate - blood. In: Chernecky CC, Berger BJ, eds. Laboratory Tests and Diagnostic Procedures. 6th ed. St Louis, MO: Elsevier Saunders; 2013:550. Patterson MC. Diseases associated with primary abnormalities in carbohydrate metabolism. In: Swaiman KF, Ashwal S, Ferriero DM, et al,…