Galactosemia Quantitation

Also known as: galactose-1-phosphate uridyltransferase.

What is galactosemia quantitation?

Galactosemia is a group of rare inherited genetic conditions that results in the body being unable to convert galactose to glucose (used by cells for energy). Galctose-1-phosphate uridyltransferase (GALT) is an enzyme responsible for one step in this process. When this is absent/deficient galactose cannot be changed to glucose and results in a number of clinical abnormalities.

Galactosemia quantitation is a blood test that checks the levels of the enzyme known as GALT. Almost all cases can be diagnosed by newborn screening.

What happens during the procedure?

Normal routine heel prick blood is drawn for newborn screening. Blood obtained by vein puncture may also be used. Blood samples are sent to a laboratory for testing.