Neonatal Screening for Inborn Errors of Metabolism

  • Horst Bickel
  • Robert Guthrie
  • Gerhard Hammersen
Conference proceedings

Table of contents

  1. Front Matter
    Pages I-XVII
  2. Rationale of Neonatal Screening for Inborn Errors of Metabolism

  3. Screening for Hereditary Metabolic Disorders

    1. A. M. O. Veale
      Pages 7-18
    2. D. H. H. Pullon
      Pages 29-44
    3. O. Thalhammer
      Pages 59-66
    4. H. L. Levy, J. T. Coulombe, V. E. Shih
      Pages 89-103
    5. R. W. E. Watts
      Pages 105-121
    6. R. Beckmann, J. M. Robert, H. Zellweger, L. Beubl, C. Dellamonica, G. Scheuerbrandt
      Pages 155-166
  4. Neonatal Screening for Congenital Hypothyroidism

  5. Neonatal Screening Programs: Organization, Legislation, Methodologic Pitfalls, and Quality Control

  6. Recommendations for and Future Aspects of Screening

    1. J. P. Colombo, G. Hammersen, H. Bickel
      Pages 315-316
  7. Back Matter
    Pages 335-345

About these proceedings


Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula­ tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro­ gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.


Erbkrankheit Errors Hypothyreose Kleinkindervorsorge Neugeborenenerkrankung Stoffwechselkrankheit child hormones pediatrics

Editors and affiliations

  • Horst Bickel
    • 1
  • Robert Guthrie
    • 2
  • Gerhard Hammersen
    • 1
  1. 1.Universitäts-KinderklinikHeidelbergGermany
  2. 2.Department of PediatricsState University of New York at Buffalo, Childrens HospitalBuffaloUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 1980
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-642-67490-7
  • Online ISBN 978-3-642-67488-4
  • Buy this book on publisher's site