Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M.J. van Wegberg, Friedrich Trefz, Study Group on Missed PKU and Missed to Follow-Up, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, François Maillot, Francjan J. van Spronsen*, K. Ahring, F. Al Mutairi, J. B. Arnoux, D. Ballhausen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)

Abstract

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

Original languageEnglish
Pages (from-to)231-234.e2
JournalJournal of Pediatrics
Volume239
DOIs
Publication statusPublished - Dec 2021

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