Newborn PKU screening in Turkey: at present and organization for future

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I Ozalp1, T Coşkun, A Tokatli

  • 1Department of Pediatrics, School of Health Technology, Hacettepe University, Ankara, Turkey.

The Turkish Journal of Pediatrics
|July 4, 2001
PubMed

Insights

Turkey

Area of Science:

  • Medical Genetics
  • Public Health
  • Pediatrics

Background:

  • Phenylketonuria (PKU) screening is a national child health program in Turkey.
  • The program, established in 1986, has expanded to cover all major cities.
  • Collaboration exists between the Ministry of Health and university hospitals.

Purpose of the Study:

  • To report on the outcomes of phenylketonuria screening in Turkey.
  • To identify challenges in the screening and management of PKU cases.
  • To recommend improvements for the national screening program.

Main Methods:

  • Guthrie test used for screening.
  • Screening conducted at the Hacettepe Screening Center in Ankara.
  • Data analyzed from 1,605,582 screened newborns.

Main Results:

  • 383 cases of persistent hyperphenylalaninemia detected (1:4,172 incidence).
  • Classified cases: 216 classical PKU, 102 mild-moderate PKU, 58 mild hyperphenylalaninemia.
  • Identified issues: sample collection, early discharge, case follow-up, and dietary compliance.

Conclusions:

  • The national PKU screening program has identified a significant number of cases.
  • Challenges in sample collection, follow-up, and treatment adherence require addressing.
  • An intersectoral approach is needed to enhance newborn screening and management, potentially including hypothyroidism.

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