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Screening for phenylketonuria (PKU) in the Netherlands

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Author: Verkerk, P.H. · Vaandrager, G.J. · Sengers, R.C.A.
Type:article
Date:1990
Source:Nederlands Tijdschrift voor Geneeskunde, 52, 134, 2533-2536
Identifier: 231356
Keywords: Health · Academic achievement · Diagnostic accuracy · Hyperphenylalaninemia · Newborn · Newborn screening · Prevalence · Blood · Consumer · Mass screening · Methodology · Consumer Participation · Human · Infant, Newborn · Mass Screening · Netherlands · Phenylalanine · Phenylketonurias

Abstract

In the period 1st September 1974 to 1st Januari 1989 2,511,000 infants (99.3 of all livebirths) were screened for PKU. Treatment was required in 158 of the 330 referred infants. The diagnosis of these 158 patients was PKU (137), hyperphenylalaninaemia (HPA) (19) and malignant HPA (2). Three cases had a false-negative screening result. The prevalence of PKU, treated HPA and malignant HPA in the Netherlands is 1:18,000, 1:132,000 en 1:1,300,000. Height adjusted for age was in 24 of the patients with PKU of Dutch parents and weight adjusted for height in 11 under the 10th centile. Ninety per cent of the patients with PKU of 5 years and older attended primary or secondary school, compared with 95 in the general population.