Yenidoğan galaktosemi tarama kitlerinin geliştirilmesi.

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Tezin Türü: Yüksek Lisans

Tezin Yürütüldüğü Kurum: Orta Doğu Teknik Üniversitesi, Türkiye

Tezin Onay Tarihi: 2015

Tezin Dili: İngilizce

Öğrenci: Sıdıka Yağmur Ünal

Eş Danışman: AYŞE MERAL YÜCEL, HÜSEYİN AVNİ ÖKTEM

Özet:

Galactosemia is an autosomal recessive disorder, caused by an impaired galactose metabolism, resulting in acute complications with high morbidity and mortality as soon as the infant begins a milk-based diet. Mutations in GALT, GALE and GLAK genes that are in the Leloir Pathway are responsible for the phenotype. Removing galactose from the diet is a critical, lifesaving intervention; yet this treatment does not prevent multiple long-term complications. Long-term neurological outcomes, particularly movement disorders, have been reported but not well studied. In this thesis, a kit prototype was constructed to measure the amount of galactose and galactose – 1 –phosphate in the collected dried blood samples using galactose dehydrogenase and alkaline phosphatase enzymes via fluorescence emission. In this prototype the first step is the conversion of galactose – 1- phosphate to galactose by alkaline phosphatase. Then the galactose formed in the first reaction and free galactose are converted to galactono – lactone by galactose dehydrogenase enzyme. Detection was done through the generation of NADH after this last step at 460 nm wavelength. In Turkey, almost all galactosemia screening kits used in clinical laboratories are imported from various countries. Such an import brings extra costs both for families and hospitals. The galactosemia screening test kit prototype offers similar test parameters but to a lower a cost compared to imported screening kits. We have also produced strips that detect galactosemia. In stips was based quantitative reading. It’ color change white to pinky-red according to amount of galactose and galactose-1phosphate amount. These strips does not need to fluorometric reading. This property became advantage in the absence of fluorimeters equipment and in rural areas.