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Disorders of Glycolysis and the Pentose Phosphate Pathway

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Inborn Metabolic Diseases

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Abstract

Glycolysis which converts each molecule of glucose to two of pyruvate is the most important source of energy in erythrocytes and in some types of skeletal muscle fibres, therefore inherited diseases of glycolysis are mainly characterized by haemolytic anaemia and/or metabolic myopathy. Ten inborn errors of the glycolytic pathway are known. The pentose phosphate pathway consists of two distinct parts: the first part, an oxidative, non-reversible pathway, produces NADPH, and the second part, a non-oxidative, reversible pathway, produces ribose for nucleotide and nucleic acid synthesis and connects intermediates to glycolysis. Four inborn errors in the pentose phosphate pathway (PPP) are known.

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Authors and Affiliations

  1. Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam, The Netherlands

    Mirjam M. C. Wamelink

  2. Clinical Development, Gene Therapy, Ultragenyx Pharmaceuticals, Cambridge, MA, USA

    Vassili Valayannopoulos

  3. Fondazione IRCCS Istituto Neurologico “C.Besta”, Milan, Italy

    Barbara Garavaglia

Authors
  1. Mirjam M. C. Wamelink
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  2. Vassili Valayannopoulos
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  3. Barbara Garavaglia
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Corresponding author

Correspondence to Mirjam M. C. Wamelink .

Editor information

Editors and Affiliations

  1. Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, University of Zurich, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Servicio de Neurologia, Hospital Sant Joan de Deu, Barcelona, Barcelona, Spain

    Ángeles García-Cazorla

  4. Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK

    John Walter

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Wamelink, M.M.C., Valayannopoulos, V., Garavaglia, B. (2022). Disorders of Glycolysis and the Pentose Phosphate Pathway. In: Saudubray, JM., Baumgartner, M.R., García-Cazorla, Á., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63123-2_7

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  • DOI: https://doi.org/10.1007/978-3-662-63123-2_7

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-63122-5

  • Online ISBN: 978-3-662-63123-2

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