What is galactosemia quantitation?

Also known as: galactose-1-phosphate uridyltransferase.

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.

Is any special preparation needed? 

No special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection and damage to surrounding organs and tissues are potential risks.

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM