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TürkiyeResearch and clinical trials

134 adults with PKU found through newborn screening in Istanbul: those who manage their own diet do better

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

A total of 134 adults with phenylketonuria followed at Istanbul Faculty of Medicine were studied. Their average age was 23. All of them had been diagnosed through newborn screening. Patients who managed their own diet had better follow-up and blood level results. As the burden of the diet increased, quality of life decreased.

What does it mean for patients and families?

In phenylketonuria, the diet lasts for life. According to this study, supporting people in managing their own diet may help. The study was carried out at a single center.

Source

PubMed (Journal of Pediatric Endocrinology and Metabolism): Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening.

Scientific paper: Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening. Journal of Pediatric Endocrinology & Metabolism, 2026. DOI: 10.1515/jpem-2026-0112 · PubMed 42370601

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

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This page was translated from Turkish by the Doktorclub editorial team.