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Inborn Errors of Amino Acid and Organic Acid Metabolism

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Principles of Perinatal-Neonatal Metabolism

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Abstract

Each of the 30–40 inborn errors of amino acid or organic acid metabolism represents a rare occurrence in pediatrics. The combined incidence is about 1:4000 during the neonatal period. Their importance derives from what they tell us about normal metabolism and that these diseases are generally treatable if detected early. In this chapter the development of selected amino acid enzymes, the pathways of amino acid and organic acid catabolism, and the specific amino-acidopathies and organic acidurias that present symptoms during the neonatal period are discussed. These disorders include the organic acidemias, such as propionic acidemia, methylmalonic acidemia, glutaric acidemia type II, and multiple carboxylase deficiency;the urea cycle disorders;maple syrup urine disease;and nonketotic hyperglycinemia. The biochemistry, approaches to treatment, and outcome of these disorders are considered.

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Authors
  1. Gerard T. Berry
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  2. Mark L. Batshaw
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Editors and Affiliations

  1. Department of Pediatrics, Brown University Program in Medicine, Providence, RI, 02905, USA

    Richard M. Cowett MD (Professor of Pediatrics) (Professor of Pediatrics)

  2. Department of Pediatrics, Women and Infants Hospital of Rhode Island, Providence, RI, 02905, USA

    Richard M. Cowett MD (Professor of Pediatrics) (Professor of Pediatrics)

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© 1991 Springer-Verlag New York Inc.

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Berry, G.T., Batshaw, M.L. (1991). Inborn Errors of Amino Acid and Organic Acid Metabolism. In: Cowett, R.M. (eds) Principles of Perinatal-Neonatal Metabolism. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-0400-5_23

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  • DOI: https://doi.org/10.1007/978-1-4684-0400-5_23

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4684-0402-9

  • Online ISBN: 978-1-4684-0400-5

  • eBook Packages: Springer Book Archive

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