Galactosemia screening
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Galactosemia screening On the Web |
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American Roentgen Ray Society Images of Galactosemia screening |
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Risk calculators and risk factors for Galactosemia screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
Now most of the infants are screened for galactosemia at birth in the US with a simple blood test with a heel prick. If suspected of having galactosemia, it is possible to diagnose unborn children with amniocentesis.
Screening
Newborns are tested for the three enzymes responsible for the metabolism of galactose, galactose-1-phosphate uridyl transferase, galactokinase and UDP galactose epimerase by examining a blood sample.
Primary blood screening is performed by fluorometric assay, which determines the levels of galactose in the blood and if elevated levels of galactose are detected, Beutler assay is performed to determine GALT enzyme activity.
Tests also include blood cultures to test bacterial infection with E. Coli for E.Coli sepsis, enzyme activity in red blood cells and ketones in the urine.