title: Newborn screening 50 years later: access issues faced by adults with PKU.
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.
authors.affiliation: Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Susan A
authors.initials: SA
authors.lastname: Berry
authors.forename: Christine
authors.initials: C
authors.lastname: Brown
authors.forename: Mitzie
authors.initials: M
authors.lastname: Grant
authors.forename: Carol L
authors.initials: CL
authors.lastname: Greene
authors.forename: Elaina
authors.initials: E
authors.lastname: Jurecki
authors.forename: Jean
authors.initials: J
authors.lastname: Koch
authors.forename: Kathryn
authors.initials: K
authors.lastname: Moseley
authors.forename: Ruth
authors.initials: R
authors.lastname: Suter
authors.forename: Sandra C
authors.initials: SC
authors.lastname: van Calcar
authors.forename: Judy
authors.initials: J
authors.lastname: Wiles
authors.forename: Stephen
authors.initials: S
authors.lastname: Cederbaum
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005820:Genetic Testing; D006297:Health Services Accessibility; D006801:Humans; D007231:Infant, Newborn; D008134:Long-Term Care; D015997:Neonatal Screening; D010649:Phenylalanine; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy / Q000453:epidemiology*; D012959:Socioeconomic Factors; D016896:Treatment Outcome; D014481:United States
chemical_list: D010649:Phenylalanine