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    Galactosemia Test

    Galactosemia Test



    Results

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

    Galactose tests (blood or urine)
    Normal:

    Negative (galactosemia is not present)
    Abnormal:

    Positive (galactosemia is present)

    The normal values listed here—called a reference range—are just a guide. These ranges vary from lab to lab, and your lab may have a different range for what’s normal. Your lab report should contain the range your lab uses. Also, your doctor will evaluate your results based on your health and other factors. This means that a value that falls outside the normal values listed here may still be normal for you or your lab.

    Galactose-1-phosphate uridyltransferase (GALT) test (blood)
    Normal:Reference 1

    18.5–28.5 Reference units per gram (U/g) of hemoglobin Opens New Window (1.19–1.84 milliunits per mole of hemoglobin [mU/mol Hb]): The person does not have galactosemia.
    Abnormal:Reference 2

    Less than 5 U/g of hemoglobin (less than 0.32 mU/mol Hb): The person has galactosemia.

    5–18.5 U/g of hemoglobin (0.32–1.18 mU/mol Hb): The person may be a Reference carrier Opens New Window of galactosemia and able to pass the disease on to his or her child.

    Galactokinase enzyme test (blood) Reference 1
    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 shows the baby has an increased risk of Reference galactosemia Opens New Window 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 past health.




    By: Reference Healthwise Staff Last Revised: Reference March 29, 2011
    Medical Review: Reference Sarah Marshall, MD - Family Medicine
    Reference Siobhan M. Dolan, MD, MPH - Reproductive Genetics


    This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Reference Terms of Use. Reference How this information was developed to help you make better health decisions.


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