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Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

  • Chapter
Inborn Metabolic Diseases

Abstract

Ten inborn errors of metabolism are described in this chapter.Four of them, hyperlysinaemia/saccharopinuria, hydroxylysinuria, 2-amino-/2-oxoadipic aciduria, and glutaric aciduria type III, may be devoid of clinical significance, but some patients are retarded and show variable neurological abnormalities.

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Author information

Authors and Affiliations

  1. University Children’s Hospital Ruprecht-Karls University, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany

    Georg F. Hoffmann

  2. University Children’s Hospital Ruprecht-Karls University, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany

    Stefan Kölker

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  1. Georg F. Hoffmann
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  2. Stefan Kölker
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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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Hoffmann, G., Kölker, S. (2012). Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism. 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_23

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_23

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

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