Galactosemia Test

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 transferase enzyme test (blood)

Normal:	18.5–28.5 units per gram (U/g) of hemoglobin (the person does not have galactosemia)
Abnormal:	Less than 5 U/g of hemoglobin (the person has galactosemia)
	5–18.4 U/g of hemoglobin (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: 12.1–39.7 milliunits per gram (mU/g) Children 2–18 years: 11.0–53.6 mU/g Infants: 3–4 times greater than adult values
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 health professional will discuss any significant abnormal results with you in relation to your baby's symptoms and medical history.

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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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