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. 1964 Jul 18;91(3):105–114.

Case Finding in Phenylketonuria

II. The Guthrie Test

M W Partington, Barbara Sinnott
PMCID: PMC1927280  PMID: 14174526

Abstract

Experience with over 6000 Guthrie tests is presented. This test is a screening procedure for phenylketonuria using small amounts of blood spotted on a filter paper which are tested by a bacterial “inhibition assay”. Certain technical aspects of the test (e.g. relation between the concentration of phenylalanine in the blood and extent of the bacterial growth zones produced, type of filter paper, size of the blood spot on the paper) were investigated. It was shown that the Guthrie test clearly distinguishes between subjects with normal plasma phenylalanine levels and patients with untreated phenylketonuria.

Applications of the Guthrie test in screening a mental hospital population, admissions to a penitentiary and newborn babies are described.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BERRY H. K., SUTHERLAND B. S., GUEST G. M. Cincinnati phenylketonuria detection program--a progress note. JAMA. 1961 Nov 25;178:842–842. doi: 10.1001/jama.1961.73040470020015. [DOI] [PubMed] [Google Scholar]
  2. BIXBY E. M., PALLATAO L. G., PRYLES C. V. Evaluation of the Bacillus subtilis inhibition-assay technic as a screening procedure for the detection of phenylketonuria. N Engl J Med. 1963 Mar 21;268:648–651. doi: 10.1056/NEJM196303212681204. [DOI] [PubMed] [Google Scholar]
  3. CENTERWALL W. R., CHINNOCK R. F., PUSAVAT A. Phenylketonuria: screening programs and testing methods. Am J Public Health Nations Health. 1960 Nov;50:1667–1677. doi: 10.2105/ajph.50.11.1667. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. DEMAIN A. L. Minimal media for quantitative studies with Bacillus subtilis. J Bacteriol. 1958 May;75(5):517–522. doi: 10.1128/jb.75.5.517-522.1958. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. FARQUHAR J. W., KANSAS E. T., TAIT H. P. Problems of routine screening for phenylketonuria. Lancet. 1962 Sep 8;2(7254):498–500. doi: 10.1016/s0140-6736(62)90358-6. [DOI] [PubMed] [Google Scholar]
  6. GHADIMI H., PARTINGTON M. W., HUNTER A. A familial disturbance of histidine metabolism. N Engl J Med. 1961 Aug 3;265:221–224. doi: 10.1056/NEJM196108032650504. [DOI] [PubMed] [Google Scholar]
  7. HSIA D. Y., LITWACK M., O'FLYNN M., JAKOVCIC S. Serum phenylalanine and tyrosine levels in the newborn infant. N Engl J Med. 1962 Nov 22;267:1067–1070. doi: 10.1056/NEJM196211222672104. [DOI] [PubMed] [Google Scholar]
  8. JERVIS G. A. Phenylpyruvic oligophrenia (phenylketonuria). Res Publ Assoc Res Nerv Ment Dis. 1954;33:259–282. [PubMed] [Google Scholar]
  9. JERVIS G. A. Studies on phenylpyruvic oligophrenia; phenylpyruvic acid content on blood. Proc Soc Exp Biol Med. 1952 Dec;81(3):715–720. doi: 10.3181/00379727-81-19998. [DOI] [PubMed] [Google Scholar]
  10. LA DU B. N., MICHAEL P. J. An enzymatic spectrophotometric method for the determination of phenylalanine in blood. J Lab Clin Med. 1960 Mar;55:491–496. [PubMed] [Google Scholar]
  11. PARTINGTON M. W., ANDERSON R. M. CASE-FINDING IN PHENYLKETONURIA. I. REPORT OF A SURVEY BY THE COLLEGE OF GENERAL PRACTICE OF CANADA. Can Med Assoc J. 1964 Jun 6;90:1312–1314. [PMC free article] [PubMed] [Google Scholar]
  12. PARTINGTON M. W., LEWIS E. J. Variations with age in plasma phenylalanine and tyrosine levels in phenylketonuria. J Pediatr. 1963 Mar;62:348–357. doi: 10.1016/s0022-3476(63)80131-6. [DOI] [PubMed] [Google Scholar]
  13. PARTINGTON M. W. Variations in intelligence in phenylktonuria. Can Med Assoc J. 1962 Apr 21;86:736–743. [PMC free article] [PubMed] [Google Scholar]
  14. SCHEEL C., BERRY H. K. Comparison of serum phenylalanine levels with growth in Guthrie's inhibition assay in newborn infants. J Pediatr. 1962 Oct;61:610–616. doi: 10.1016/s0022-3476(62)80155-3. [DOI] [PubMed] [Google Scholar]
  15. UDENFRIEND S., COOPER J. R. Assay of L-phenylalanine as phenylethylamine after enzymatic decarboxylation; application to isotopic studies. J Biol Chem. 1953 Aug;203(2):953–960. [PubMed] [Google Scholar]
  16. WOOLF L. I., OUNSTED C., LEE D., HUMPHREY M., CHESHIRE N. M., STEED G. R. Atypical phenylketonuria in sisters with normal offspring. Lancet. 1961 Aug 26;2(7200):464–465. doi: 10.1016/s0140-6736(61)92434-5. [DOI] [PubMed] [Google Scholar]

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