Master's in Genetic Counseling (MGC)

Galactosemia Screening in West Virginia

Screening for galactosemia in the state of West Virginia is performed using both the Hill test for total galactose and a modified Beutler test for galactose-1-phosphate uridyl transferase. All specimens are tested by both methods. The Hill test for total galactose is an automated procedure to yield a quantitative fluorometric determination of galactose and galactose-1-phosphate from the filter paper blood spot. The Beutler test depends on fluorescence produced by the normal enzyme cascade in red blood cells. The test is abnormal when the enzyme activity is reduced to less than half of normal. Those with severe defects cannot be differentiated from milder variants or some heterozygotes by this method alone. Diagnostic testing consists of a quantitative measurement of blood galactose and galactose-1-phosphate uridyl transferase as recommended by a metabolic specialist.

The follow-up recommendations for galactosemia screens in the state of West Virginia are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
Enzyme activity normal, total galactose >15 mg/dl	contamination of blood spot with milk exchange transfusion in an affected infant galactokinase deficiency/emperative deficiency	A repeat filter paper specimen is required. The specimen should be obtained before feeding or one hour after feeding. Immediate referral to a metabolic specialist is recommended. It is recommended that the physician evaluate the infant’s health status and place the infant on soy formula until confirmatory diagnosis is made. Additional testing should be under the direction of a metabolic specialist.
Enzyme activity normal, total galactose 10-14 mg/dl	contamination of blood spot with milk exchange transfusion in an affected infant galactokinase deficiency/emperative deficiency	A repeat filter paper specimen is required. The specimen should be obtained before feeding or one hour after feeding. If the repeat specimen verifies the initial result, referral to a metabolic specialist is recommended. An evaluation of the infant’s health status is recommended. If indicated, the child may be placed on soy formula until confirmatory diagnosis is made.
Enzyme activity low or absent, total galactose normal	heat damaged sample sample dried inadequately before shipping enzyme variant with low activity galactosemia, but little lactose ingestion	A repeat filter paper specimen is required. The physician is asked to assess the infant’s health status and, if indicated, place the infant on soy formula until confirmation. If the repeat specimen verifies the initial test results, it is recommended that a blood specimen be sent to a reference lab to quantitate the galactose-1-phosphate uridyl transferase. While awaiting the results, consultation with a metabolic specialist is recommended.
Enzyme activity deficient, total galactose >10 mg/dl	Galactosemia	NO REPEAT FILTER PAPER SPECIMEN. Immediate referral to a metabolic specialist is recommended. It is recommended that the physician evaluate the infant's health status and place the child on soy formula until the confirmatory diagnosis is made.

 

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