Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye

@article{kose2026implementation,
  title = {{Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye}},
  author = {Engin Köse and Berrak Bilginer Gürbüz and Halil Tuna Akar and Tuğba Akbey Koçak and Merve Aslantaş and Esra Er and Pelin Teke Kısa and İbrahim Taş and Nazmiye Tüzel Gündüz and Merve Yoldaş Çelik and Şahin Erdöl},
  journal = {Orphanet Journal of Rare Diseases},
  year = {2026},
  month = aug,
  doi = {10.1186/s13023-026-04536-7},
  url = {https://doi.org/10.1186/s13023-026-04536-7},
  note = {CC BY 4.0},
}

TY  - JOUR
TI  - Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye
AU  - Engin Köse
AU  - Berrak Bilginer Gürbüz
AU  - Halil Tuna Akar
AU  - Tuğba Akbey Koçak
AU  - Merve Aslantaş
AU  - Esra Er
AU  - Pelin Teke Kısa
AU  - İbrahim Taş
AU  - Nazmiye Tüzel Gündüz
AU  - Merve Yoldaş Çelik
AU  - Şahin Erdöl
PY  - 2026
DA  - 2026/08/06
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04536-7
UR  - https://doi.org/10.1186/s13023-026-04536-7
AB  - Background: Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong dietary management and regular monitoring to maintain metabolic control. Although international guidelines provide clear recommendations, their implementation in real-world clinical practice may be limited by structural and patient-related factors. This study aimed to evaluate clinician-reported PKU management practices across multiple centers in Turkiye and to identify key barriers to guideline implementation.  Methods: A descriptive cross-sectional survey was conducted among metabolic specialists from multiple centers across Turkiye during a scientific meeting. The questionnaire, developed based on international PKU guidelines, assessed monitoring practices, dietary management, and barriers to implementation. Participants reported both theoretically recommended and clinician-reported monitoring frequencies across different age groups. Data were analyzed using descriptive statistics, and differences between recommended and reported practices were evaluated using the Stuart–Maxwell test.  Results: Sixteen metabolic specialists from 16 centers participated. While 69% of clinicians recommended weekly monitoring in infants, only 25% reported achieving this in practice (p = 0.018). Similar discrepancies were observed in adolescents and adults (p = 0.009 and p = 0.043, respectively), whereas no significant difference was found in children aged 1–12 years (p = 0.122). Home-based dried blood spot monitoring was not routinely used in 69% of centers. The most important barriers to optimal monitoring included lack of home sampling systems, geographical distance, and work or school-related constraints. Substantial variability was also observed in dietary management practices, including protein prescription and protein substitute use.  Conclusions: PKU management in Turkiye is characterized by a clear gap between guideline recommendations and clinician-reported practices, primarily driven by structural and implementation-related barriers. These findings highlight the importance of strengthening healthcare infrastructure, improving access to monitoring tools, and integrating patient-centered strategies to enhance the real-world implementation of evidence-based care in rare diseases.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04536-7.
SN  - 1750-1172
ER  -