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Neonatal Screening for Organic Acidurias

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Neonatal Screening for Inborn Errors of Metabolism

Abstract

The organic acidurias may be broadly defined as those inborn errors of metabolism in which the specific inherited metabolic lesion causes an abnormal excretion of a non-amino carboxylic acid. The characteristic excretion product may contain other functional groups (e.g., oxo- or hydroxy-) and may be either aliphatic or aromatic. Taken in this broad sense, the organic acidurias include disorders for which other biochemical markers, such as an abnormal amino aciduria, may also be available or in which the abnormal organic aciduria may not be a major determinant of the clinical presentation. In some cases, the clinical picture is determined by a property of a principle acidic metabolite that is unrelated to the generation of free hydrogen ions, for example the formation of calcium oxalate in the primary hyperoxalurias. The diseases that can be regarded as organic acidurias on this rather broad basis are listed in Table 1.

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Authors
  1. R. W. E. Watts
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Editors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, 6900, Heidelberg, Germany

    Horst Bickel  & Gerhard Hammersen  & 

  2. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall, Room 352, 3455 Main Street, Buffalo, N.Y., 14214, USA

    Robert Guthrie Ph.D., M.D. (Professor of Pediatrics and Microbiology) (Professor of Pediatrics and Microbiology)

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© 1980 Springer-Verlag Berlin Heidelberg

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Watts, R.W.E. (1980). Neonatal Screening for Organic Acidurias. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_10

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_10

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

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