Galactosemia screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]

Overview

Now most of the infants are screened for galactosemia at birth in the US with a simple blood test with a heel prick. If suspected of having galactosemia, it is possible to diagnose unborn children with amniocentesis.

Screening

Newborns are tested for the three enzymes responsible for the metabolism of galactose, galactose-1-phosphate uridyl transferase, galactokinase and UDP galactose epimerase either by examining a blood sample.

Primary blood screening is performed by fluorometric assay, which determines the levels of galactose in the blood and if elevated levels of galactose are detected, Beutler assay is performed to determine GALT enzyme activity.