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

View Full Paper

Ask AI

Bookmark

Authors

Discussion

Multicenter observational study reports on diagnosis and treatment in phenylketonuria patients, indicating unmet needs.

Implementation of the national newborn screening program improved the median time to diagnosis for phenylketonuria.
Among the enrolled 1,553 patients, 43.5% had parental consanguinity, impacting mutation prevalence and diagnosis timing.
Genetic testing revealed the c.1066-11G > A variant as the most frequently detected in Turkish PKU patients.
Low maternal education levels correlated with longer diagnostic timelines, emphasizing the need for awareness and education.

Balcı et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark