Robert Guthrie

A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria. Results are presented for 682 infants, 96% of whom were 4 days of age. None of the blood phenylalanine values were found to be as high as 4 mg/100 ml, and only 8% were above 2 mg/100 ml. These values appear to be in agreement with values obtained by other methods, and indicate that a very low rate of "false-positives" will be encountered during screening of the 10,000 or more infants that may be necessary to detect a case of phenylketonuria. It is recommended that any result of 6 mg/100 ml or above be considered positive, and require confirmation by phenylalanine determination of a second blood specimen.

<h3>To the Editor:—</h3> Since the discovery by Fölling, in 1935, of phenylketonuria (PKU), the simple ferric chloride test of urine has been the universal method of detecting this disease in spite of serious limitations. These include (1) failure of young infants to produce a positive test until several weeks after birth, even though there is evidence that blood phenylalanine concentration increases rapidly in the first few days of life in this condition (Armstrong<i>et al., Proceedings of the Third International Neurochemical Symposium,</i>1958, to be published) and (2) failure of older PKU cases to produce a positive ferric chloride test if blood phenylalanine levels are below approximately 20 mg. per cent. Obviously a simple method of detecting elevated phenylalanine blood levels should overcome these limitations. Recently, with the cooperation of Dr. William Welch, Director of the Laboratory at Newark State School, Newark, N.Y., we have had the opportunity to develop

Abstract Since blood spots on filter paper are routinely collected in many areas for phenylketonuria testing of newborn infants, we developed several methods for detecting sickle-cell disease and other hemoglobinopathies using this type of specimen. Simple, inexpensive modifications of cellulose acetate electrophoresis plus citrate-agar and globin-chain electrophoresis are employed, permitting one technician to screen as many as 500 specimens per day at a material cost of $0.03 per specimen. (N Engl J Med 288:1265–1268, 1973)

ADVERTISEMENT RETURN TO ISSUEPREVCommunicationNEXTIdentification of a Small Molecule Inhibitor of the IL-2/IL-2Rα Receptor Interaction Which Binds to IL-2Jefferson W. Tilley, Li Chen, David C. Fry, S. Donald Emerson, Gordon D. Powers, Denise Biondi, Tracey Varnell, Richard Trilles, Robert Guthrie, Francis Mennona, Gerry Kaplan, Ronald A. LeMahieu, Mathew Carson, Ru-Jen Han, C.-M. Liu, Robert Palermo, and Grace JuView Author Information Roche Research Center, Hoffmann-La Roche Inc. Nutley, New Jersey 07110 Cite this: J. Am. Chem. Soc. 1997, 119, 32, 7589–7590Publication Date (Web):August 13, 1997Publication History Received4 March 1997Revised27 May 1997Published online13 August 1997Published inissue 1 August 1997https://pubs.acs.org/doi/10.1021/ja970702xhttps://doi.org/10.1021/ja970702xrapid-communicationACS PublicationsCopyright © 1997 American Chemical SocietyRequest reuse permissionsArticle Views1362Altmetric-Citations107LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-AlertscloseSupporting Info (1)»Supporting Information Supporting Information SUBJECTS:Assays,Inhibition,Inhibitors,Molecular interactions,Receptors Get e-Alerts