A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Turkiye: 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 in phenylketonuria. IDMP-PKU is an ongoing study to gain insight into the patient journey and identify the unmet needs and areas for improvement in diagnosis, treatment, and follow-up of PKU in Türkiye.

Aim

To present the rationale and design of the IDMP-PKU study, as well as the findings from an interim analysis, describing baseline demographic, diagnosis, family history, and genetic testing data for 1553 children enrolled in the study.

Method

This is a multicenter, observational re

SUBMITTER: Balci MC 

PROVIDER: S-EPMC12317577 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature