Fenilketonüride Beslenme ve Yeni Tedavi Yaklaşımları

Fenilketonüri (PKU), fenilalanin hidrosilaz (PAH) geninde mutasyon sebebiyle gelişen otozomal resesif geçişli bir hastalıktır. Doğumdan sonra kan fenilalanin (FA) seviyesi normal aralıktayken, besin alımına başladıktan sonra bebeklerin kan FA seviyeleri yükselir. Hastalığa özgü tıbbi ve beslenme tedavisi yapılmadığında mental gerilik (IQ<50), deri-saç pigmentasyon bozukluları, büyüme geriliği, mikrosefali, epilepsi, davranış bozuklukları, hiperaktivite ve anksiyete gibi birçok klinik bulgu görülebilmektedir. Hastalığın tedavisinde çeşitli yöntemler bulunmakla birlikte beslenmenin önemi büyüktür. Beslenme tedavisinin amacı kan ve beyinde fenilalaninin birikmesini önlemektir. Ayrıca fenilalaninin tirozine dönüşümünün olmaması sebebiyle eksikliği gelişen tirozini yerine koymak ikincil amaçtır.

Anahtar Kelimeler:

Fenilketonüri, Beslenme, Yeni Tedavi Yaklaşımları

Nutrition and New Treatment Approaches in Phenylketonuria

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