title: Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
abstract: Guthrie's landmark discovery and the subsequent implementation of the first newborn screening programs for phenylketonuria (PKU) and other inherited errors of metabolism (IEM) could be - in a 50 year retrospective - easily considered among the greatest advances in medicine. They have not just improved the quality of hundreds of thousands of lives, but also transformed our understanding and approach to PKU and IEM in general. However, according to the available albeit very scarce data, many countries and regions seem not to share the benefits of the last 50 years of development. Many of them have not yet introduced the newborn screening for PKU or face significant problems in its implementation. In addition, the issue seems to be underrated by the relevant professional forums. Action to improve the current situation should urgently be taken.
authors.affiliation: Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia.
authors.forename: Urh
authors.initials: U
authors.lastname: Groselj
authors.affiliation: Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia.
authors.forename: Mojca Zerjav
authors.initials: MZ
authors.lastname: Tansek
authors.affiliation: Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address: tadej.battelino@mf.uni-lj.si.
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D003906:Developing Countries; D049673:History, 20th Century; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000266:history; D010661:Phenylketonurias / Q000175:diagnosis* / Q000266:history
keywords: Guthrie test; Newborn screening; Phenylketonuria