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Nicklaus Children’s Hospital has several outpatient and urgent care centers throughout South Florida, including on-demand, virtual care.
Walk-in urgent care with no appointment needed.
Serving as your child's primary doctor's office.
Pediatric specialty consultations available closer to home.
A full range of comprehensive services all under one roof.
Connect with providers from the comfort of your own home.
With over 800 pediatric physicians on staff, we’re dedicated to helping you connect with the right specialist for your needs.
We have expertise in treating children and educating families on hundreds of different conditions.
We use cutting-edge, specialized treatments and procedures to ensure the best care for your child.
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.
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.
No special preparation is needed for the test.
Pain, bleeding, infection and damage to surrounding organs and tissues are potential risks.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: March 26, 2019 12:25 PM