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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 clinicians 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: galactokinase deficiency screening, GALK screening.
Galactokinase is a common enzyme in the body that facilitates the metabolism of the sugar galactose found in dairy and some fruits and vegetables. When the body is deficient in galactokinase (a recessively inherited genetic disorder) it causes galactose and galactitol to build up in the body. Galactokinase is one of 3 inborn inherited errors of metabolism that lead to high blood levels of galactose (and one type of a group of disorders called galactosemia). In the newborn baby it presents primarily with the early onset of bilateral eye cataracts as a result of galactitol accumulating in the lens of the eye. The newborn blood screening test examines for the blood level of galactokinase which usually will identify a deficiency.
Blood is drawn either by routine heel prick or from a vein after birth as part of the newborn screening for inborn errors of metabolism (or later as appropriate) which is sent to a laboratory for testing.
In most cases, no special preparation is needed for the test.
Pain, bleeding, infection and damage to surrounding organs and tissues (depending on how blood is drawn) are potential risks.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: March 26, 2019 12:25 PM
A sphingomyelinase test is a blood test that checks for a deficiency of the lysosomal enzyme known as sphingomyelinase.