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Journal article
Newborn screening 50 years later: access issues faced by adults with PKU
Genetics in medicine, v 15(8), pp 591-599
Aug 2013
PMID: 23470838
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Genet Med 2013:15(8):591–599
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Details
- Title
- Newborn screening 50 years later: access issues faced by adults with PKU
- Creators
- Susan A. Berry - University of MinnesotaChristine Brown - National PKU AllianceMitzie Grant - Drexel UniversityCarol L. Greene - University of Maryland, BaltimoreElaina Jurecki - BioMarinJean Koch - Los Angeles, USAKathryn Moseley - University of Southern CaliforniaRuth Suter - BioMarinSandra C. van Calcar - University of Wisconsin–MadisonJudy Wiles - Facet Communications Inc.Stephen Cederbaum - University of California at Los Angeles
- Publication Details
- Genetics in medicine, v 15(8), pp 591-599
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychiatry
- Web of Science ID
- WOS:000322709800001
- Scopus ID
- 2-s2.0-84881349966
- Other Identifier
- 991019167889704721
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- Collaboration types
- Industry collaboration
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity