Journal of Inherited Metabolic Disease

, Volume 2, Issue 3, pp 59–63 | Cite as

Results of screening for phenylalanine and other amino acid disturbances among pregnant women

  • J. Hyánek
  • J. Homolka
  • J. Trnka
  • E. Seemanová
  • J. Červenka
  • Z. Třesohlavá
  • J. Kapras
  • A. Doležal
  • J. Šráček
  • V. Vácha
  • J. Hoza
  • F. Lošan
  • S. Nevšímalová
  • M. Malá
  • H. Viletová
Article

Abstract

Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.

Keywords

Public Health Internal Medicine Pregnant Woman Metabolic Disease Phenylalanine 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Agraval, H. C., Bone, A. H. and Davidson, A. M. Inhibition of bone protein synthesis by phenylalanine.Biochem. J. 112 (1969) 278Google Scholar
  2. Angeli, E., Deuman, A. R., Harris, R. F., Kirman, B. H. and Stern, J. Maternal phenylketonuria: a family with seven mentally retarded siblings.Devel. Med. Child. Neurol. 16 (1974) 800Google Scholar
  3. Arthur, L. J. and Hulme, J. D. Intelligent small-for-dates baby born to oligophrenic phenylketonuric mother after low phenylalanine diet during pregnancy.Pediatrics 46 (1970) 235PubMedGoogle Scholar
  4. Blaskovics, M. E., Schaeffler, G. E. and Hack, S. Phenylalaninemia. Differential diagnosis.Arch. Dis. Child. 49 (1974) 835PubMedGoogle Scholar
  5. Cockburn, F., Fahrquhar, J. W., Forfar, J. C., Giles, M. and Robins, S. P. Maternal hyperphenylalaninaemia in the normal and phenylketonuric mother and its influence on maternal plasma and fetal fluid amino acid concentration.J. Obstet. Gynecol. 79 (1972) 698Google Scholar
  6. Efron, M. L., Young, D., Moser, W. H. and MacReady, R. A. A simple chromatographic test for detection of disorders of amino acid metabolism.N. Engl. J. Med. 270 (1964) 1378PubMedGoogle Scholar
  7. Ersser, R. S., Oakley, S. E. and Seakins, J. W. T. Urinary phenolic acids by thin-layer chromatography.Clin. Chim. Acta 30 (1970) 143PubMedGoogle Scholar
  8. Hansen, H. Epidemiological considerations on maternal hyperphenylalaninaemia.Am. J. Ment. Def. 75 (1970) 22Google Scholar
  9. Howel, R. R. and Stevenson, R. E. The offspring of phenylketonuric women.Soc. Biol. 18 (1971) 519Google Scholar
  10. Hsia, D. Y. Y. Phenylketonuria and its variants.Prog. Med. Genet. 7 (1970) 29PubMedGoogle Scholar
  11. Huntly, C. C. and Stevenson, R. E. Maternal phenylketonuria: course of two pregnancies.Obstet. Gynecol. 34 (1969) 694PubMedGoogle Scholar
  12. Levy, H. L., Karolkiewitz, V., Hongkon, S. A. and MacReady, R. A. Screening the normal population in Massachusetts for phenylketonuria.N. Engl. J. Med. 282 (1970) 1455PubMedGoogle Scholar
  13. MacReady, R. A. and Levy, H. L. The problem of maternal phenylketonuria.Am. J. Obstet. Gynecol. 113 (1972) 121PubMedGoogle Scholar
  14. Pitt, D. and Gooch, J. The problem of maternal phenylketonuria.Aust. Paediatr. J. 10 (1972) 337Google Scholar
  15. Saifer, A. and Harris, A. F. Studies on the photometric determination of phenylpyruvic acid in urine.Clin. Chem. 5 (1959) 203PubMedGoogle Scholar
  16. Shih, V. E., Efron, M. L. and Mechanic, G. L. Rapid short-column chromatography of amino acids: a method for blood and urine specimens in the diagnostic treatment of metabolic diseases.Anal. Biochem. 20 (1967) 299PubMedGoogle Scholar
  17. Takada, G., Chow, I. Z. and Tada, K. Maternal hyperphenylalaninemia induced experimentally: decreased incorporation of14C-leucine into protein in the brain.J. Exp. Med. (Tohoku) 113 (1974) 1973Google Scholar
  18. Thalhammer, O.et al. Frequency of inborn errors of metabolism, especially PKU in some representative new-born screening centres around the world.Humangenetik 30 (1975) 237PubMedGoogle Scholar
  19. Valdivieso, F., Maties, M., Ugarto, M. and Mayor, I. F. Increased free phenylalanine in the milk of a phenylketonuric mother.Biochem. Med. 7 (1973) 340Google Scholar
  20. Waisman, H. A. Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring.Am. J. Obstet. Gynecol. 99 (1967) 431PubMedGoogle Scholar
  21. Yu, J. S. and O'Halloren, M. T. Children of mothers with phenylketonuria.Lancet 1 (1970) 210PubMedGoogle Scholar

Copyright information

© MTP Press Limited 1979

Authors and Affiliations

  • J. Hyánek
    • 1
  • J. Homolka
    • 1
  • J. Trnka
    • 1
  • E. Seemanová
    • 1
  • J. Červenka
    • 1
  • Z. Třesohlavá
    • 1
  • J. Kapras
    • 1
  • A. Doležal
    • 1
  • J. Šráček
    • 1
  • V. Vácha
    • 1
  • J. Hoza
    • 1
  • F. Lošan
    • 1
  • S. Nevšímalová
    • 1
  • M. Malá
    • 1
  • H. Viletová
    • 1
  1. 1.Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical FacultyCharles UniversityPragueCzechoslovakia

Personalised recommendations