Galactosemia screening: Difference between revisions
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==Overview== | ==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. | |||
They are tested for the three enzymes responsible for the metabolism of galactose,galactose-1-phosphate uridyl transferase, galactokinase and UDP galactose epimerase either by examining a blood sample or a urine sample. | |||
==Screening== | ==Screening== | ||
Revision as of 03:34, 29 January 2014
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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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.
They are tested for the three enzymes responsible for the metabolism of galactose,galactose-1-phosphate uridyl transferase, galactokinase and UDP galactose epimerase either by examining a blood sample or a urine sample.