Abstract
Screening programs for the detection of phenylketonuria (PKU) in newborns are now so widespread and the benefits to society at large so generally accepted that any developed country without a PKU screening program might be regarded as not having achieved the best possible standard of preventive medical care.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Ambrose JA, Ross C, Whitfield F (1967) An ultramicro automated method (auto analyzer) for the fluorometric determination of phenylalanine. Tech Symp 1:13
Bickel H, Gerrard J, Hickmans EM (1954) The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediat 43:64
Bush JW, Chen MM, Patrick DL (1973) Health status index in cost effectiveness: Analysis of PKU program. In: Berg RL (ed) Health status indexes. Hospital Research and Educational Trust, pp 172–209
Cabalska B, Duczynska N, Borzymowska J, Zorska K, Koslacz-Folga A, Bozkowa K (1977) Termination of dietary treatment in phenylketonuria. Eur J Paediatr 126:253–262
Cowie VA (1951) An atypical case of phenylketonuria. Lancet 1:272
Curtius HC, Niederwieser A, Viscontini M, Otten A, Schaub J, Scheibenreiter S, Schmidt H (1979). Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiaterin. Clin Chim Acta 93:251–262
Efron ML, Young D, Moser HW, MacCready RA (1964) A simple chromatographic screening test for the detection of disorders of amino acid metabolism. A technique using whole blood or urine collected on filter paper. Engl J Med 270:1378
Forssman H, Akesson HO (1970) Mortality of the mentally deficient: A study of 12903 institutionalised subjects. J Ment Defic Res 14:276–294
Guthrie R, Susi A (1963) A simple phenylalanine method for the detection of phenylketonuria in large populations of newborn infants. Pediatrics 32:338
Lang K (1955) Phenylpyruvic oligophrenia. Erg Inn Med Kinderheilkd 6:78–99
McCaman MW, Robins E (1962) Fluorimetric method for the determination of phenylalanine in serum. J Lab Clin Med 59:885
Smith I, Clayton BE, Wolff OH (1975) New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet 1:1108
Smith I, Lobascher ME, Stevenson JE, Wolff OH, Schmid H, Grubel-Kaiser S, Bickel H (1978) Effect of stopping low phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 2:723–726
Trefz FK, Bartholome K, Bickel H, Lutz P, Schmidt H (1978) In vivo determination of phenylalanine hydroxylase activity using heptadeutero — phenylalanine and comparison to the in vitro assay values. Monogr Hum Genet 9:108–113
Watson BM, Schlesinger P, Cotton RGH (1977) Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients. Clin Chim Acta 78:417
WHO (1968) techn Rep Ser 401:7
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1980 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Veale, A.M.O. (1980). Screening for Phenylketonuria. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_2
Download citation
DOI: https://doi.org/10.1007/978-3-642-67488-4_2
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-67490-7
Online ISBN: 978-3-642-67488-4
eBook Packages: Springer Book Archive