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: Lysosomal Enzyme for Niemann-Pick Disease.
Niemann-Pick disease is a disorder that affects the body’s ability to breakdown lipids. It results from a deficiency of the lysosomal enzyme known as sphingomyelinase. A sphingomyelinase test is a blood test that checks for a deficiency of the enzyme.
A routine blood draw is required in order to begin the sphingomyelinase test. The blood sample is then taken to a laboratory for testing and analysis.
Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw.
Reviewed by: Sajel L Kana, MD
This page was last updated on: April 29, 2021 03:04 PM
Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.
Galactokinase is a common enzyme in the body that facilitates the metabolism of the sugar galactose found in dairy and some fruits and vegetables. The newborn blood screening test examines for the blood level of galactokinase which usually will identify a deficiency.