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Newborn Screening for Inborn Errors of Metabolism

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Inborn Metabolic Diseases

Abstract

Newborn screening was first applied to the detection of phenylketonuria (PKU) by a bacterial inhibition assay pioneered in 1961 by Guthrie, who was also responsible for the introduction of the use of a dried blood sample [1]. This was followed by further bacterial inhibition assays to detect other aminoacidopathies (maple syrup urine disease, homocystinuria, urea cycle disorders, etc.), but only screening for PKU was widely adopted. In 1975 Dussault described screening for congenital hypothyroidism (CH) [2], and since then other disorders covered in some screening programmes have included congenital adrenal hyperplasia, the galactosaemias, cystic fibrosis, biotinidase deficiency, glucose-6-phosphate dehydrogenase deficiency and many others.

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Author information

Authors and Affiliations

  1. The Children’s Hospital, 2145, Sydney, NSW, Australia

    Bridget Wilcken & Dietrich Matern

  2. Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, 55905, Rochester, MN, USA

    Piero Rinaldo

Authors
  1. Bridget Wilcken
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  2. Piero Rinaldo
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  3. Dietrich Matern
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Editor information

Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Wilcken, B., Rinaldo, P., Matern, D. (2012). Newborn Screening for Inborn Errors of Metabolism. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_3

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

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