Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

J Pediatr. 2021 Dec:239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30.

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.

Keywords: NBS; immigrant; late diagnosis; phenylketonuria; refugee.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Delayed Diagnosis / statistics & numerical data*
  • Emigrants and Immigrants*
  • Female
  • Global Health
  • Health Care Surveys
  • Health Policy
  • Health Services Accessibility / organization & administration
  • Health Services Accessibility / statistics & numerical data*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening / organization & administration
  • Neonatal Screening / trends*
  • Phenylketonurias / diagnosis*
  • Young Adult