This research paper focuses on implementation of classical galactosemia screening using the Beutler method. Classical galactosemia is a hereditary disease and is caused by the ability to break down galactose, a monosaccharide in lactose, thus causing toxic intermediates to accumulate. This causes organ failure and if left untreated even death. It is second most frequent metabolical disorder with a frequency rate of 1:19 700 in Estonia. Before this project, classical galactosemia was tested by manually drawing blood when the baby already came to the hospital with extreme organ system damages. After this project, every newborn is being tested in Estonia on its second day.
Contestants
Jasper August Tootsi
Medicine
Country
Estonia