Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ,
The Journal of pediatrics, 2021 Dec
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.