| Yazarlar (2) |
Esra Gül
|
Doç. Dr. Ayşe GÜNEŞ BAYIR
Bezm-İ Âlem Vakıf Üniversitesi, Türkiye |
| Özet |
| Phenylketonuria (PKU), one of the most common metabolic diseases, is a recessive, congenital and hereditary disease that occurs with the absence or deficiency of the enzyme called phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Therefore, the aim of this review was to discuss the disease management in individuals with phenylketonuria. As a result of the inability to metabolize phenylalanine amino acid in patients with PKU, the level of phenylalanine increases in the systemic circulation and brain, which may lead to neurocognitive activity and psychosocial dysfunctions and various disorders. If infants with PKU, who are indistinguishable from healthy babies at first birth, are fed like normal babies, phenylalanine accumulates in the body and symptoms occur and gradually worsen. To keep the blood sugar phenylalanine level at the desired range various medical treatment methods (pharmacological treatment and gene therapy), especially nutritional therapy, can be preferred. However, alternative treatment methods should be carried out in combination with diet therapy. Some dietary restrictions are maintained for life, while patients follow a strict diet in dietary protein intake to prevent high plasma phenylalanine levels and neurological damage. In this review, the definition, classification and phenylalanine-restricted diet treatments of phenylketonuria are discussed. |
| Anahtar Kelimeler |
| Phenylketonuria | phenylalanine restriction | phenylalanine hycroxylase | enzyme deficiency | nutritional therapy |
| Makale Türü | Diğer (Teknik, not, yorum, vaka takdimi, editöre mektup, özet, kitap krıtiği, araştırma notu, bilirkişi raporu ve benzeri) |
| Makale Alt Türü | ESCI dergilerinde yayımlanan teknik not, editöre mektup, tartışma, vaka takdimi ve özet türünden makale |
| Dergi Adı | Clinical and Experimental Health Sciences |
| Dergi ISSN | 2459-1459 |
| Dergi Tarandığı Indeksler | ESCI |
| Makale Dili | Türkçe |
| Basım Tarihi | 06-2024 |
| Cilt No | 14 |
| Sayı | 2 |
| Sayfalar | 572 / 581 |
| Doi Numarası | 10.33808/clinexphealthsci.1360624 |
| Makale Linki | http://dx.doi.org/10.33808/clinexphealthsci.1360624 |
| Atıf Sayıları |
