BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuGalactose-1-phosphate uridyltransferase blood testGalactosemia screen; GALT; Gal-1-PUTGalactose-1-phosphate uridyltransferase is a blood test that measures the level of a substance called GALT, which helps break down milk sugars in your body. A low level of this substance causes a condition called galactosemia.GalactosemiaGalactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.Read Article Now Book Mark Article How the Test is Performed A blood sample is needed. Blood sampleVenipuncture is the collection of blood from a vein. It is most often done for laboratory testing.Read Article Now Book Mark Article How the Test will Feel 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. Why the Test is Performed 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 builds up in the blood. Continued use of milk products can lead to:MetabolismMetabolism refers to all the physical and chemical processes in the body that convert or use energy, such as:BreathingCirculating bloodControlling bo...Read Article Now Book Mark Article Clouding of the lens of the eye (cataracts) CataractsA cataract is a clouding of the lens of the eye.Read Article Now Book Mark Article Scarring of the liver (cirrhosis) CirrhosisCirrhosis is scarring of the liver and poor liver function. It is the last stage of chronic liver disease.Read Article Now Book Mark Article Failure to thrive Failure to thriveFailure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and sex....Read Article Now Book Mark Article Yellow color of the skin or eyes (jaundice) JaundiceJaundice is a yellow color of the skin, mucus membranes, or eyes. The yellow coloring comes from bilirubin, a byproduct of old red blood cells. Jau...Read Article Now Book Mark Article Liver enlargement Liver enlargementEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...Read Article Now Book Mark Article Intellectual disabilityIntellectual disabilityIntellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...Read Article Now Book Mark Article This can be a serious condition if not treated.Every state in the United States requires newborn screening tests to check for this disorder. Normal Results The normal range is 18.5 to 28.5 U/g Hb (units per gram of hemoglobin).HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.Read Article Now Book Mark Article 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. What Abnormal Results Mean 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 generally used as substitutes. This test is very sensitive, so it does not miss many infants with galactosemia. But, false-positives can occur. If your child has an abnormal screening result, follow-up tests must be done to confirm the result. Risks 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:Excessive bleeding Multiple punctures to locate veins Fainting or feeling lightheaded Hematoma (blood accumulating under the skin, causing bruising) Infection (a slight risk any time the skin is broken) Open ReferencesReferencesChernecky CC, Berger BJ. Galactose-1-phosphate - blood. In: Chernecky CC, Berger BJ, eds. Laboratory Tests and Diagnostic Procedures. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:550.Patterson MC. Diseases associated with primary abnormalities in carbohydrate metabolism. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 39.AllVideoImagesTog Tests for Galactose-1-phosphate uridyltransferase blood test Galactose-1-phosphate uridyltransferase blood testRelated Information Galactosemia(Condition)Metabolism(Special Topic)Enzyme(Special Topic)Fluid imbalance(Condition)Failure to thrive(Condition)Adult cataract(Condition)Enlarged liver(Symptoms)Cirrhosis(Condition)Intellectual disability(Condition)Cataracts(In-Depth)Hepatitis(In-Depth)Cirrhosis(In-Depth) Review Date: 10/27/2020 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. 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