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Various Organic Acidurias

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Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Abstract

As the title indicates, this chapter comprises a mixed group of six individual organic acidurias. Two are disturbances of the citric acid cycle (2-ketoglutaric aciduria and fumaric aciduria). Two further organic acidurias are characterised by excretion of high levels of 2-hydroxyglutaric acid: D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria. The other two organic acidurias described in this chapter are malonic aciduria and N-acetylaspartic aciduria (Canavan disease).

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Authors
  1. Cornelis Jakobs
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  2. Nanda M. Verhoeven
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  3. Marjo S. Van Der Knaap
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland

    Nenad Blau

  2. Dept. of Pediatrics and Clinical Chemistry, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands

    Marinus Duran

  3. 3639 Amesbury Road, Los Angeles, CA, 90027, USA

    Milan E. Blaskovics

  4. Biochemical Genetics Laboratory Dept. of Molecular and Med. Genetics, Oregon Health & Science University, 2525 SW 3rd Avenue, Suite 350, Portland, Oregon, 97201, USA

    K. Michael Gibson

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© 2003 Springer-Verlag Berlin Heidelberg

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Jakobs, C., Verhoeven, N.M., Van Der Knaap, M.S. (2003). Various Organic Acidurias. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_14

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  • DOI: https://doi.org/10.1007/978-3-642-55878-8_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62709-5

  • Online ISBN: 978-3-642-55878-8

  • eBook Packages: Springer Book Archive

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