Indications directory

Three enzymes have a part in galactose metabolism:

1. Galactose-1-phosphate-uridyltransferase activity (GAL-1-PUT) (incidence of “classic galactosemia” 1:12.000 – 1:30.000),
2. Galactokinase (incidence of deficiency 1:50.000) and
3. UDP-galactose-4-epimerase (deficiency, very rare).

Galactosemia with symptoms of severe icterus, vomiting, lethargy is practically always a result of a deficiency of GAL-1-PUT-activity.

Test:

Evaluation of GAL-1-PUT-activity from capillary blood. Special filter paper soaked with 4-5 drops of capillary blood from the heel (alternatively 2ml EDTA-blood).

Molecular-genetic evaluation:

Early detection of the “classic galactosemia” with sequence of all exons and introns (2ml EDTA-blood)