Urea Cycle Diseases

  • A. Lowenthal
  • A. Mori
  • B. Marescau

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)

Table of contents

  1. Front Matter
    Pages i-xiii
  2. Introduction

    1. Front Matter
      Pages xv-xv
    2. A. Lowenthal
      Pages 1-3
  3. Diagnostic, Clinical, Pathological and Biochemical Aspects of the Diseases

    1. Front Matter
      Pages 7-7
    2. Screening

      1. K. Tada, H. Tateda, K. Metoki
        Pages 19-27
    3. Urea Cycle Enzyme Deficiencies

      1. N. Nagata, I. Akaboshi, J. Yamamoto, F. Endo, I. Matsuda, T. Katsuki
        Pages 47-52
      2. B. Francois, P. Briand, L. Cathelineau
        Pages 53-62
      3. Takeyori Saheki, Atsuko Ueda, Masakazu Hosoya, Mariko Sase, Kyoko Nakano, Tsunehiko Katsunuma
        Pages 63-76
      4. Yoshiko Matsuda, Akihiko Tsuji, Nobuhiko Katunuma
        Pages 77-82
      5. T. Sakiyama, T. Suzuki, M. Owada, T. Kitagawa
        Pages 95-100
      6. H. G. Terheggen, A. Lowenthal, J. P. Colombo
        Pages 111-119
      7. Makoto Yoshino, Kaoru Kubota, Ichiro Yoshida, Tatsuo Murakami, Fumio Yamashita
        Pages 121-125
      8. M. Batshaw, S. Brusilow
        Pages 127-127
    4. Secondary and Transient Hyperammonemia

About this book

Introduction

Introduction New Facets in Urea Cycle Disorders INTRODUCTION A. Lowenthal Laboratory of Neurochemistry, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium This occasion is by no means the first meeting devoted to urea cycle diseases. It has been preceeded by meetings held in the Netherlands and in Spain. Accordingly the justification for a further meeting is not immediately evident. The reason for it is that the problems related to urea cycle diseases are developing fast, as instanced inter alia by I) the relation observed between hyperornithinemia and gyrate atrophy and the therapeutic acquisitions which result from it 2) the treatment of hyperammonemias. If the diagnosis of urea cycle disease is easily established by following standard principles and techniques, i.e. by means of amino acid analysis, with or without prior loading tests, by ammonemia measurement and by enzyme determination, also if these operations produce clear and precise conclusions in the matter of genetics and preventive medicine, yet many physiopathological questions remain unanswered and a number of therapeutic problems of these remain unsolved.

Keywords

Glutamat amino acid chemistry diagnosis enzyme enzymes genetics kidney medicine metabolism mitochondria mutation protein synthesis urea

Editors and affiliations

  • A. Lowenthal
    • 1
  • A. Mori
    • 2
  • B. Marescau
    • 1
  1. 1.Born-Bunge FoundationUniversitaire Instelling AntwerpenWilrijkBelgium
  2. 2.Institute for NeurobiologyOkayama University Medical SchoolOkayamaJapan

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-4757-6903-6
  • Copyright Information Springer-Verlag US 1982
  • Publisher Name Springer, Boston, MA
  • eBook Packages Springer Book Archive
  • Print ISBN 978-1-4757-6905-0
  • Online ISBN 978-1-4757-6903-6
  • Series Print ISSN 0065-2598
  • About this book