Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
Journal of Pediatrics, Volume 239, Year 2021
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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.