Fenilketonüride beslenme ve yeni tedavi yaklaşımları
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Date
2018
Authors
Ülker, İzzet
Şanlıer, Nevin
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
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. Beslenme tedavisiyle çocuğun büyüme ve gelişmesi normal seyreder ve komplikasyonlar engellenir. Ancak beslenme tedavisinin uygulanması küçük yaşlarda çok kolayken hastanın yaşı ilerledikçe diyete uyum güçleşmektedir. Yeni tedavi yaklaşımları ile diyete uyum kolaylaştırılabilmekte ve klinik bulgular engellenebilmektedir. Yeni tedavi yaklaşımlarından bazıları glikomakropeptid, büyük nötral aminoasitler ve tetrahidrobiyopterindir. Tetrahidrobiyopterin sadece tedaviye cevap veren klasik fenilketonürili hastalarda (önceden yapılan testlerle uygun olacağı öngörülen, seçilmiş hastalarda) ya da BH4 metabolizması bozukluğu olanlarda kullanılabilmektedir. Glikomakropeptid ve büyük nötral aminoasitler neredeyse tüm hastalarda kullanılabilmektedir. Henüz çalışma aşamasında olan fenilalanin amonyak liyaz enziminin kullanılması, biriken fenilalaninin zararsız metabolitlere dönüşümünü sağlamaktadır. Ancak etkin bir beslenme tedavisinin uygulanması, sağlık ekibiyle aile arasında iletişim sağlanması ve aileye tedavi yönteminin anlatılmasıyla mümkün olur. Ayrıca beslenme tedavisinin yeni tedavi yaklaşımları ile desteklenmesi hastalığın bulgularının engellenmesi ve hastanın yaşam kalitesinin artırılmasında önemlidir.
Phenylketonuria (PKU) is an autosomal recessively inherited disease.It occurs due to the mutations in the gene of phenylalanine hydroxylase (PAH).While the level of plasma phenylalanine (Phe) is within normal range after birth,the plasma Phe level of infants arise when they begin to feed.If appropriate medical and nutritional therapies are not implemented,many clinical sings,such as mental illness (IQ<50),skin-hair pigmentation disorders,growth retardation,microcephaly,epilepsy,behavioral disorders, hyperactivity, anxiety and so on may be observed. There are several methods for treatment besides the most important one which is nutritional therapy. The first aim of nutritional therapy is to prevent the accumulation of phenylalanine in the blood and brain. The second purpose is to replace tyrosine deficiency due to lack of conversion of phenylalanine to tyrosine. When nutritional therapy is implemented, the growth and development of the child will return to normal, and complications may be prevented. The implementation of nutritional therapy is too easy at early ages. However, the compliance of diet is getting harder with aging. New treatment approaches can facilitate compliance with diet and clinical signs may be prevented. Some of the new therapeutic approaches are usage of large neutral amino acids, glycomacropeptide and tetrahydrobiopterin. Tetrahydrobiopterin treatment may be used only in patients with classical phenylketonuria who responds to treatment or metabolism disorders of BH4 metabolism. Glycomacropeptide and large neutral amino acids can be used in nearly all patients.The use of phenylalanine ammonialyase which is in the study phase converts accumulated phenylalanine to its harmless metabolites.However, to ensure implementation of an effective nutritional therapy, it is necessary to provide strong communication between the family members and health professionals and the treatment methods must be widely described to family.Also supporting the nutritional therapy effectively with the new treatment approaches is important to prevent clinical signs and to improve the patient's life quality.
Phenylketonuria (PKU) is an autosomal recessively inherited disease.It occurs due to the mutations in the gene of phenylalanine hydroxylase (PAH).While the level of plasma phenylalanine (Phe) is within normal range after birth,the plasma Phe level of infants arise when they begin to feed.If appropriate medical and nutritional therapies are not implemented,many clinical sings,such as mental illness (IQ<50),skin-hair pigmentation disorders,growth retardation,microcephaly,epilepsy,behavioral disorders, hyperactivity, anxiety and so on may be observed. There are several methods for treatment besides the most important one which is nutritional therapy. The first aim of nutritional therapy is to prevent the accumulation of phenylalanine in the blood and brain. The second purpose is to replace tyrosine deficiency due to lack of conversion of phenylalanine to tyrosine. When nutritional therapy is implemented, the growth and development of the child will return to normal, and complications may be prevented. The implementation of nutritional therapy is too easy at early ages. However, the compliance of diet is getting harder with aging. New treatment approaches can facilitate compliance with diet and clinical signs may be prevented. Some of the new therapeutic approaches are usage of large neutral amino acids, glycomacropeptide and tetrahydrobiopterin. Tetrahydrobiopterin treatment may be used only in patients with classical phenylketonuria who responds to treatment or metabolism disorders of BH4 metabolism. Glycomacropeptide and large neutral amino acids can be used in nearly all patients.The use of phenylalanine ammonialyase which is in the study phase converts accumulated phenylalanine to its harmless metabolites.However, to ensure implementation of an effective nutritional therapy, it is necessary to provide strong communication between the family members and health professionals and the treatment methods must be widely described to family.Also supporting the nutritional therapy effectively with the new treatment approaches is important to prevent clinical signs and to improve the patient's life quality.
Description
Keywords
Fenilketonüri, Beslenme, Yeni tedavi yaklaşımları, Phenylketonuria, Nutrition, New treatment approaches
Citation
Ülker, İ. ve Şanlıer, N. (2018). "Fenilketonüride beslenme ve yeni tedavi yaklaşımları". Güncel Pediatri, 16(2), 187-198.