Galactosemia Newborn Screening Results Protocol
University of Missouri Health Care

Missouri screens newborn for galactosemia by measuring the activity of the enzyme, galactose-1-phosphate uridyl transferase (also known as GALT).  This enzyme is responsible converting galactose-1-phosphate into glucose-1-phosphate. Deficiency of this enzyme causes elevations of galactose-1-phosphate and hence the symptoms of galactosemia.  Because Missouri does not measure galactose-1-phosphate level, screening for galactokinase or epimerase deficiency is not performed on Missouri newborns.   

For questions about follow-up testing for an abnormal galactosemia screen, please contact Dawn Peck at 573-884-5192.

To download a fact sheet about galactosemia, click here.

To download a follow-up protocol for an abnormal galactosemia screen, click here. 

 
Labs that perform confirmatory galactosemia testing (not a complete listing):

University Children’s Genetics Lab (Progene)
    download Progene lab form

Mayo Clinic Biochemical Genetics Lab
 

Children’s Mercy Molecular Genetics Lab
    download Children's Mercy lab form

Division of Medical Genetics
University of Missouri Health Care
One Hospital Drive
Columbia, Missouri  65212
phone: 573-882-6991
fax: 573-884-3543