A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

Abstract Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Diagnosis and prompt initiation of appropriate treatment shortly after birth are important for achieving optimal outcomes i...

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Main Authors: Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phenylketonuria
Newborn screening
Diagnosis
Allelic variant
Consanguinity
Maternal education
Online Access:https://doi.org/10.1186/s13023-025-03702-7
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https://doi.org/10.1186/s13023-025-03702-7

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