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Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders

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Book cover Inborn Metabolic Diseases

Abstract

Neurological manifestations are very common in organic acid disorders and sometimes the leading and/or presenting feature [1]. One group presents exclusively with characteristic (progressive) neurological symptoms of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke, and macrocephaly [2]. These “cerebral” organic acid disorders include glutaric aciduria type I, 2-oxoglutaric aciduria, L-2-hydroxyglutaric aciduria, and mevalonic aciduria. Strikingly, in all these disorders the pathological compound is a five-carbon organic acid.

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Authors
  1. G. F. Hoffmann
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Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

  2. Hospital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

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© 1995 Springer-Verlag Berlin Heidelberg

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Hoffmann, G.F. (1995). Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_22

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  • DOI: https://doi.org/10.1007/978-3-662-03147-6_22

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

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