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Branched Chain Amino Acid Oxidation Disorders

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Branched Chain Amino Acids in Clinical Nutrition

Part of the book series: Nutrition and Health ((NH))

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Abstract

Leucine, isoleucine and valine are neutral, aliphatic amino acids (AAs) which each contain a methyl branch in their side chain. Proper homeostasis requires the unimpaired degradation of these amino acids which occurs in mitochondria via the concerted action of a series of enzymes with acetyl-CoA, propionyl-CoA and acetoacetic acid as final end products. Defects in 11 of the 13 enzymes involved in the degradation of the different coenzyme A esters formed after transamination followed by oxidative decarboxylation have been described in literature. In this Chapter we will describe these enzyme deficiencies in detail

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Authors and Affiliations

  1. Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands

    Ronald J. A. Wanders Ph.D., Marinus Duran Ph.D. & Ference Loupatty Ph.D.

  2. Department of Clinical Chemistry, Reinier de Graaf Groep, Postbus 5011, Delft, 2600 GA, The Netherlands

    Ference Loupatty Ph.D.

Authors
  1. Ronald J. A. Wanders Ph.D.
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  2. Marinus Duran Ph.D.
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  3. Ference Loupatty Ph.D.
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Correspondence to Ronald J. A. Wanders Ph.D. .

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Editors and Affiliations

  1. Intensive Care, Barnet and Chase Farm Hospitals, Royal Free London NHS Foundation Trust, London, United Kingdom

    Rajkumar Rajendram

  2. Diabetes and Nutritional Sciences, Kings College London, London, United Kingdom

    Victor R. Preedy

  3. Department of Biomedical Sciences, University of Westminster, London, United Kingdom

    Vinood B. Patel

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Wanders, R.J.A., Duran, M., Loupatty, F. (2015). Branched Chain Amino Acid Oxidation Disorders. In: Rajendram, R., Preedy, V., Patel, V. (eds) Branched Chain Amino Acids in Clinical Nutrition. Nutrition and Health. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-1923-9_11

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  • DOI: https://doi.org/10.1007/978-1-4939-1923-9_11

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