Galactosemia Test

GALT (Galactose-1-Phosphate Uridyltransferse)

Results

A galactosemia test is a blood or urine test that checks for the enzymes that are needed to change galactose into glucose.

Galactose tests (blood or urine)

Normal:	Negative (galactosemia is not present)
Abnormal:	Positive (galactosemia is present)

 

Galactose-1-phosphate uridyltransferase (GALT) test (blood)

Normal:	18.5–28.5 units per gram (U/g) of hemoglobin (1.19–1.84 milliunits per mole of hemoglobin [mU/mol Hb]): The person does not have galactosemia.
Abnormal:	Less than 5 U/g of hemoglobin (less than 0.32 mU/mol Hb): The person has galactosemia.
	5–18.4 U/g of hemoglobin (0.32–1.18 mU/mol Hb): The person may be a carrier of galactosemia and able to pass the disease on to his or her child.

 

Galactokinase enzyme test (blood)

Normal:	Adults: 12–40 milliunits per gram of hemoglobin (mU/g Hb) (200–667 pkat/g Hb) Children 2–18 years: 11–54 mU/g Hb (183–900 pkat/g Hb) Children 0–2 years: 11–150 mU/ g Hb (183–2500 pkat/g Hb)
Abnormal:	Lower-than-normal values, depending on age

A newborn screening test that indicates the baby has galactosemia will be confirmed by other tests.

Many conditions can change galactose levels. Your doctor will discuss any significant abnormal results with you in relation to your baby's symptoms and medical history.

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Author:	Maria G. Essig, MS, ELS	Last Updated: April 20, 2009
Medical Review:	Joy Melnikow, MD, MPH - Family Medicine Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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