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Branched Chain Amino Acids and Maple Syrup Urine Disease

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Branched Chain Amino Acids in Clinical Nutrition

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

Abstract

In 1954 Menkes et al. [1] described a new syndrome affecting four siblings with a progressive infantile cerebral dysfunction, commencing in the first week of life and resulting in death within 3 months of age. The patient’s urine had a distinctive smell resembling burnt sugar or maple syrup. Three years later, Westall et al. coined the term Maple Syrup Urine Disease (MSUD) and found the branched chain amino acids (BCAA), valine, leucine, and isoleucine were markedly elevated in these patients [2].

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Authors and Affiliations

  1. NSW Biochemical Genetics Service, The Children’s Hospital at Westmead, University of Sydney, Hawkesbury Road, Westmead, NSW, 2145, Australia

    Kevin Carpenter Ph.D.

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  1. Kevin Carpenter Ph.D.
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Correspondence to Kevin Carpenter 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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Carpenter, K. (2015). Branched Chain Amino Acids and Maple Syrup Urine Disease. 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_12

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  • DOI: https://doi.org/10.1007/978-1-4939-1923-9_12

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