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Screening test for galactosemia using urine specimens
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
Urine galactose can be elevated in patients with galactosemia caused by either galactose-1-phosphate uridyltransferase (GALT) deficiency or galactokinase (GALK) deficiency.
Classic galactosemia can be diagnosed by analysis of GALT enzyme.
See Galactosemia Testing Algorithm in Special Instructions.
Spectrophotometric, Kinetic