What Is Galactosemia?
8. Diagnosis
Neonatal screening for galactosemia is routine in many countries. The condition cannot be diagnosed clinically because the early symptoms are not specific. For this reason, the infants are diagnosed via screening tests.
If the parents have galactosemia, the diagnosis can be made prior to birth by taking a sample from the amniotic fluid surrounding the baby within the uterus, or from the placenta. Additionally, taking a blood sample from the heel of the infant or a urine sample can also be used in neonatal screening for galactosemia. These tests will screen for the levels of the three enzymes responsible, and for the levels of galactose in blood. Molecular testing is also used as a confirmatory test, to identify mutations in the GALT gene.
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