Also known as: galactitol urine test.
What is galactitol?
Galactitol is a type of sugar that results from the metabolism of galactose by an enzyme called galactokinase. When galactokinase deficiency (GALK) occurs as a fairly common inherited recessive disorder it results in (among other products) an excessive accumulation of galactitol primarily in the eyes causing cataracts. Testing is by newborn blood screening, testing for the enzyme in red blood cells and by gene analysis.
What happens during the procedure?
Blood is required to be sent to a laboratory for testing.
Is any special preparation needed?
No special preparation is needed for this test.
What are the risk factors?
Depending on where blood is collected, pain, bleeding, infection and damage to tissues in the vicinity are potential complications.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: December 18, 2020 05:23 PM