Newborn screening 50 years later: Access issues faced by adults with PKU

Susan A. Berry, Christine Brown, Mitzie Grant, Carol L. Greene, Elaina Jurecki, Jean Koch, Kathryn Moseley, Ruth Suter, Sandra C. Van Calcar, Judy Wiles, Stephen Cederbaum

Research output: Contribution to journalReview articlepeer-review

61 Scopus citations

Abstract

Fifty years after the implementation of universal newborn screening programs for phenylketonuria, the first disease identified through newborn screening and considered a success story of newborn screening, a cohort of adults with phenylketonuria treated from birth provides valuable information about effects of long-term treatment for inborn errors of metabolism in general, and phenylketonuria specifically. For phenylketonuria, newborn screening allows early implementation of the phenylalanine-restricted diet, eliminating the severe neurocognitive and neuromotor impairment associated with untreated phenylketonuria. However, executive function impairments and psychiatric problems are frequently reported even for those treated early and continuously with the phenylalanine-restricted diet alone. Moreover, a large percentage of adults with phenylketonuria are reported as lost to follow-up by metabolic clinics. While a group of experts identified by the National Institutes of Health convenes to update treatment guidelines for phenylketonuria, we explore individual patient, social, and economic factors preventing >70% of adult phenylketonuria patients in the United States from accessing treatment. As more conditions are identified through newborn screening, factors affecting access to treatment grow in importance, and we must continue to be vigilant in assessing and addressing factors that affect patient treatment outcomes and not just celebrate amelioration of the most severe manifestations of disease.

Original languageEnglish (US)
Pages (from-to)591-599
Number of pages9
JournalGenetics in Medicine
Volume15
Issue number8
DOIs
StatePublished - Aug 2013
Externally publishedYes

Keywords

  • Access
  • Newborn screening
  • PKU
  • Phenylketonuria
  • Treatment

ASJC Scopus subject areas

  • Genetics(clinical)

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