PEDIATRICS Vol. 32 No. 3 September 1963, pp. 338-343
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Guthrie, R.
Right arrow Articles by Susi, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Guthrie, R.
Right arrow Articles by Susi, A.

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

Robert Guthrie Ph.D., M.D.1 and Ada Susi 1

1 Department of Pediatrics, School of Medicine State University of New York at Buffalo and Children's Hospital, Buffalo 22, New York

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.

Submitted on May 7, 1963




This article has been cited by other articles:


Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
W. E. Funk, S. Waidyanatha, S. H. Chaing, and S. M. Rappaport
Hemoglobin Adducts of Benzene Oxide in Neonatal and Adult Dried Blood Spots
Cancer Epidemiol. Biomarkers Prev., August 1, 2008; 17(8): 1896 - 1901.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
J. Fachiroh, P. R. Prasetyanti, D. K. Paramita, A. T. Prasetyawati, D. W. Anggrahini, S. M. Haryana, and J. M. Middeldorp
Dried-Blood Sampling for Epstein-Barr Virus Immunoglobulin G (IgG) and IgA Serology in Nasopharyngeal Carcinoma Screening
J. Clin. Microbiol., April 1, 2008; 46(4): 1374 - 1380.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
O. Soetens, C. Vauloup-Fellous, I. Foulon, P. Dubreuil, B. De Saeger, L. Grangeot-Keros, and A. Naessens
Evaluation of Different Cytomegalovirus (CMV) DNA PCR Protocols for Analysis of Dried Blood Spots from Consecutive Cases of Neonates with Congenital CMV Infections
J. Clin. Microbiol., March 1, 2008; 46(3): 943 - 946.
[Abstract] [Full Text] [PDF]

Home page
 Arch Pediatr Adolesc MedHome page
B. A. Tarini
The Current Revolution in Newborn Screening: New Technology, Old Controversies
Arch Pediatr Adolesc Med, August 1, 2007; 161(8): 767 - 772.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. I. L. Sjoholm, J. Dillner, and J. Carlson
Assessing Quality and Functionality of DNA from Fresh and Archival Dried Blood Spots and Recommendations for Quality Control Guidelines
Clin. Chem., August 1, 2007; 53(8): 1401 - 1407.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
N. Nozawa, S. Koyano, Y. Yamamoto, Y. Inami, I. Kurane, and N. Inoue
Real-Time PCR Assay Using Specimens on Filter Disks as a Template for Detection of Cytomegalovirus in Urine
J. Clin. Microbiol., April 1, 2007; 45(4): 1305 - 1307.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
P J Lee and P Cook
Frequency of metabolic disorders: more than one needle in the haystack.
Arch. Dis. Child., November 1, 2006; 91(11): 879 - 880.
[Full Text] [PDF]

Home page
 PediatricsHome page
M. R. Liske, C. S. Greeley, D. J. Law, J. D. Reich, W. R. Morrow, H. S. Baldwin, T. P. Graham, A. W. Strauss, A. L. Kavanaugh-McHugh, and W. F. Walsh
Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease
Pediatrics, October 1, 2006; 118(4): e1250 - e1256.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
J H Jones, J Mackenzie, G A Croft, S Beaton, D Young, and M D C Donaldson
Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003
Arch. Dis. Child., August 1, 2006; 91(8): 680 - 685.
[Abstract] [Full Text] [PDF]

Home page
 CLIN PEDIATRHome page
R. C. Lussky and R. F. Cifuentes
False Positive Newborn Screens Secondary to a Maternal Inborn Error of Metabolism
Clinical Pediatrics, June 1, 2006; 45(5): 471 - 474.
[PDF]

Home page
 PediatricsHome page
R. R. Howell
We Need Expanded Newborn Screening
Pediatrics, May 1, 2006; 117(5): 1800 - 1805.
[Full Text] [PDF]

Home page
 PediatricsHome page
B. L. Therrell, A. Johnson, and D. Williams
Status of Newborn Screening Programs in the United States
Pediatrics, May 1, 2006; 117(5/S1): S212 - S252.
[Abstract] [Full Text] [PDF]

Home page
 Arch Pediatr Adolesc MedHome page
J. P. Brosco, M. Mattingly, and L. M. Sanders
Impact of Specific Medical Interventions on Reducing the Prevalence of Mental Retardation
Arch Pediatr Adolesc Med, March 1, 2006; 160(3): 302 - 309.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
R. E. Amir, V. R. Sutton, and I. B. Van den Veyver
Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy
J Child Neurol, September 1, 2005; 20(9): 779 - 783.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
R. E. Amir, V. Reid Sutton, and I. B. Van den Veyver
Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy
J Child Neurol, August 1, 2005; 20(8): 779 - 783.
[Abstract] [PDF]

Home page
 J. Med. EthicsHome page
N J Kerruish and S P Robertson
Newborn screening: new developments, new dilemmas
J. Med. Ethics, July 1, 2005; 31(7): 393 - 398.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
D. S. Millington
Newborn Screening for Lysosomal Storage Disorders
Clin. Chem., May 1, 2005; 51(5): 808 - 809.
[Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
W. Luo, H. Yang, K. Rathbun, C.-P. Pau, and C.-Y. Ou
Detection of Human Immunodeficiency Virus Type 1 DNA in Dried Blood Spots by a Duplex Real-Time PCR Assay
J. Clin. Microbiol., April 1, 2005; 43(4): 1851 - 1857.
[Abstract] [Full Text] [PDF]

Home page
 Am J Trop Med HygHome page
S. BERECZKY, A. MARTENSSON, J. P. GIL, and A. FARNERT
SHORT REPORT: RAPID DNA EXTRACTION FROM ARCHIVE BLOOD SPOTS ON FILTER PAPER FOR GENOTYPING OF PLASMODIUM FALCIPARUM
Am J Trop Med Hyg, March 1, 2005; 72(3): 249 - 251.
[Abstract] [Full Text] [PDF]

Home page
 NeoReviewsHome page
H. L. Levy
Historical Perspectives: Newborn Metabolic Screening
NeoReviews, February 1, 2005; 6(2): e57 - e60.
[Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
P J Lee, D Ridout, J H Walter, and F Cockburn
Maternal phenylketonuria: report from the United Kingdom Registry 1978-97
Arch. Dis. Child., February 1, 2005; 90(2): 143 - 146.
[Abstract] [Full Text] [PDF]

Home page
 JAMAHome page
S. E. Waisbren, S. Albers, S. Amato, M. Ampola, T. G. Brewster, L. Demmer, R. B. Eaton, R. Greenstein, M. Korson, C. Larson, et al.
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
JAMA, November 19, 2003; 290(19): 2564 - 2572.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
D. H. Chace, T. A. Kalas, and E. W. Naylor
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
Clin. Chem., November 1, 2003; 49(11): 1797 - 1817.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
L. N. Venditti, C. P. Venditti, G. T. Berry, P. B. Kaplan, E. M. Kaye, H. Glick, and C. A. Stanley
Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis
Pediatrics, November 1, 2003; 112(5): 1005 - 1015.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. F. Greaves, A. T. Maia, J. L. Wiemels, and A. M. Ford
Leukemia in twins: lessons in natural history
Blood, October 1, 2003; 102(7): 2321 - 2333.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
H. Karlsson, C. Guthenberg, U. von Dobeln, and K. Kristenssson
Extraction of RNA from Dried Blood on Filter Papers after Long-Term Storage
Clin. Chem., June 1, 2003; 49(6): 979 - 981.
[Full Text] [PDF]

Home page
 NEJMHome page
M. J. Khoury, L. L. McCabe, and E. R.B. McCabe
Population Screening in the Age of Genomic Medicine
N. Engl. J. Med., January 2, 2003; 348(1): 50 - 58.
[Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
C.-Y. J. Wang, J. J. Giambrone, and B. F. Smith
Detection of Duck Hepatitis B Virus DNA on Filter Paper by PCR and SYBR Green Dye-Based Quantitative PCR
J. Clin. Microbiol., July 1, 2002; 40(7): 2584 - 2590.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Pastinen, M. Perola, J. Ignatius, C. Sabatti, P. Tainola, M. Levander, A.-C. Syvanen, and L. Peltonen
Dissecting a population genome for targeted screening of disease mutations
Hum. Mol. Genet., December 1, 2001; 10(26): 2961 - 2972.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
National Institutes of Health Consensus Developmen
National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management, October 16-18, 2000
Pediatrics, October 1, 2001; 108(4): 972 - 982.
[Abstract] [Full Text] [PDF]

Home page
 J. Nutr.Home page
J. V. Mei, J. R. Alexander, B. W. Adam, and W. H. Hannon
Use of Filter Paper for the Collection and Analysis of Human Whole Blood Specimens
J. Nutr., May 1, 2001; 131(5): 1631S - 1636.
[Abstract] [Full Text]

Home page
 PediatricsHome page
Serving the Family From Birth to the Medical Home. Newborn Screening: A Blueprint for the Future - A Call for a National Agenda on State Newborn Screening Programs
Pediatrics, August 1, 2000; 106(2): 389 - 422.
[Full Text]

Home page
 PediatricsHome page
S. A. Centerwall and W. R. Centerwall
The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist
Pediatrics, January 1, 2000; 105(1): 89 - 103.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
E. W. Naylor and D. H. Chace
Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism
J Child Neurol, November 1, 1999; 14(1_suppl): S4 - S8.
[Abstract] [PDF]

Home page
 Clin. Chem.Home page
M. Tuchman and M. T. McCann
Phenylalanine and Tyrosine Quantification by Stable Isotope Dilution Liquid Chromatography–Mass Spectrometry from Filter Paper Blood Spots
Clin. Chem., April 1, 1999; 45(4): 571 - 572.
[Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
H. L. Levy
Phenylketonuria: Old disease, new approach to treatment
PNAS, March 2, 1999; 96(5): 1811 - 1813.
[Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
K. Abe and N. Konomi
Hepatitis C Virus RNA in Dried Serum Spotted onto Filter Paper Is Stable at Room Temperature
J. Clin. Microbiol., October 1, 1998; 36(10): 3070 - 3072.
[Abstract] [Full Text]

Home page
 PediatricsHome page
D. W. Spady, L. D. Saunders, and F. Bamforth
Who Gets Missed: Coverage in a Provincial Newborn Screening Program for Metabolic Disease
Pediatrics, August 1, 1998; 102(2): e21 - 21.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
H. A. Pearson
The Ever-changing Content of Pediatrics Over Fifty Years
Pediatrics, July 1, 1998; 102(1): 168 - 176.
[Full Text]

Home page
 Clin. Chem.Home page
A. A. Reilly, R. Bellisario, and K. A. Pass
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography
Clin. Chem., February 1, 1998; 44(2): 317 - 326.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
S. T. Wang, S. Pizzolato, and H. P. Demshar
Receiver operating characteristic plots to evaluate Guthrie, Wallac, and Isolab phenylalanine kit performance for newborn phenylketonuria screening
Clin. Chem., October 1, 1997; 43(10): 1838 - 1842.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child. Fetal Neonatal Ed.Home page
K. Bartlett, S. J Eaton, and M. Pourfarzam
New developments in neonatal screening
Arch. Dis. Child. Fetal Neonatal Ed., September 1, 1997; 77(2): 151F - 154.
[Full Text]

Home page
 BloodHome page
M. Suttorp, M. Ritgen, N. von Neuhoff, R. Schoch, and N. Schmitz
Blood on Filter Paper as a Readily Available Source of bcr-abl Rearranged mRNA
Blood, August 15, 1997; 90(4): 1713 - 1715.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. S. Rashed, M. P. Bucknall, D. Little, A. Awad, M. Jacob, M. Alamoudi, M. Alwattar, and P. T. Ozand
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
Clin. Chem., July 1, 1997; 43(7): 1129 - 1141.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
E R McCabe
Utility of PCR for DNA analysis from dried blood spots on filter paper blotters.
Genome Res., November 1, 1991; 1(2): 99 - 106.
[PDF]

Home page
 ScienceHome page
P. Rowley
Genetic screening: marvel or menace?
Science, July 13, 1984; 225(4658): 138 - 144.
[Abstract] [PDF]

Home page
 ScienceHome page
R. Shen and C. Abell
Phenylketonuria: a new method for the simultaneous determination of plasma phenylalanine and tyrosine
Science, August 12, 1977; 197(4304): 665 - 667.
[Abstract] [PDF]

Home page
 CLIN PEDIATRHome page
C. F. Johnson
What is the Best Age to Discontinue the Low Phenylalanine Diet in Phenylketonuria ?: A Presentation of Some Contributory Data
Clinical Pediatrics, March 1, 1972; 11(3): 148 - 156.
[Abstract] [PDF]

Home page
 CLIN PEDIATRHome page
L. I. Kahn
Phenylketonuria: Diagnostic and Therapeutic Dilemma
Clinical Pediatrics, May 1, 1970; 9(5): 263 - 271.
[PDF]

Home page
 The Journal of the Royal Society for the Promotion of HealthHome page
F.P. Hudson
The Prevention of Mental Retardation
The Journal of the Royal Society for the Promotion of Health, November 1, 1968; 88(6): 291 - 293.


Home page
 CLIN PEDIATRHome page
R. O. Fisch and J. M. Horrobin
Down's Syndrome with Phenylketonuria
Clinical Pediatrics, April 1, 1968; 7(4): 226 - 227.
[PDF]

Home page
 CLIN PEDIATRHome page
G. Solomons, E. J. Alt, R. L. Jensen, and D. C. Dorsey
The Guthrie Test in Monitoring the Diet in PKU: An Appraisal of Its Applicability
Clinical Pediatrics, March 1, 1965; 4(3): 147 - 149.
[PDF]