Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M J van Wegberg; Friedrich Trefz; Maria Gizewska; Sibtain Ahmed; Layachi Chabraoui; Maha S Zaki; François Maillot; Francjan J van Spronsen; Study Group on Missed PKU and Missed to Follow-Up

doi:10.1016/j.jpeds.2021.08.070

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M J van Wegberg
Friedrich Trefz
Maria Gizewska
Sibtain Ahmed
Layachi Chabraoui
Maha S Zaki
François Maillot
Francjan J van Spronsen
Study Group on Missed PKU and Missed to Follow-Up

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.

Bibliographical data

Original language	English
ISSN	0022-3476
DOIs	https://doi.org/10.1016/j.jpeds.2021.08.070
Publication status	Published - 12.2021
Externally published	Yes

Comment Deanary

Brief Report

PubMed	34474089