Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg, Annemiek M J; Trefz, Friedrich; Gizewska, Maria; Ahmed, Sibtain; Chabraoui, Layachi; Zaki, Maha S; Maillot, François; van Spronsen, Francjan J et al. · J Pediatr · 2021

cross_sectional · Level IV

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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.

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