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.

They 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 or a urine sample.