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Nutrition in Infancy pp 13–26Cite as

Nutritional Support in Inborn Errors of Metabolism

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Abstract

Inborn errors of metabolism are disorders caused by genetic defects that produce problems in normal metabolic processes. [1] Although each single gene disease is relatively rare, many more diseases have had their genetic basis elucidated because of recent research into the human genome. In a normal metabolic pathway, a substrate is converted into a product in a chemical reaction catalyzed by an enzyme, sometimes helped by a coenzyme. A genetic mutation producing a defective enzyme or cofactor is usually responsible for these diseases. Signs and symptoms of these disorders may appear due to the accumulation in blood or in other tissues of the substrate, to the production of toxic metabolites because of the use of alternative metabolic pathways, or to the lack of the final product. They result from variations in the structure and function of enzymes or other proteins. The aim of treatment is to correct the biochemical abnormality and may include the following:

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Authors and Affiliations

  1. Clinical Nutrition Service, Children’s Hospital, Harvard Medical School and Harvard School of Public Health, Boston, MA, USA

    Juan J. Diaz M.D., Ph.D.

  2. Children’s Hospital, Harvard Medical School and Harvard School of Public Health, Boston, MA, USA

    Marilyn Bernard

  3. Harvard Medical School and Harvard School of Public Health, Boston, MA, USA

    Lauren Furuta

  4. Department of Gastroenterology and Nutrition, Clinical Nutrition Service, Children’s Hospital, Boston, USA

    Clifford Lo M.D., M.P.H., Sc.D.

  5. Harvard Medical School and Harvard School of Public Health, 300 Longwood Avenue, Boston, MA, 02115, USA

    Clifford Lo M.D., M.P.H., Sc.D.

Authors
  1. Juan J. Diaz M.D., Ph.D.
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  2. Marilyn Bernard
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  3. Lauren Furuta
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  4. Clifford Lo M.D., M.P.H., Sc.D.
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Correspondence to Clifford Lo M.D., M.P.H., Sc.D. .

Editor information

Editors and Affiliations

  1. Arizona Health Science Center, Mel and Enid Zuckerman, University of Arizona, 1295 N. Martin, Tucson, 85724-5155, Arizona, USA

    Ronald Ross Watson

  2. Centre for Gastroenterology, and Nutrition, University College London, Gower Street, London, WC1E 6BT, United Kingdom

    George Grimble

  3. School of Medicine, Diabetes & Nutritional, King's College London, 150 Stamford St., London, SE1 9NH, United Kingdom

    Victor R. Preedy

  4. Division of Health Promotion Sciences, Mel and Enid Zuckerman, University of Arizona, 1295 N. Martin Avenue, Tucson, 85724, Arizona, USA

    Sherma Zibadi

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Diaz, J.J., Bernard, M., Furuta, L., Lo, C. (2013). Nutritional Support in Inborn Errors of Metabolism. In: Watson, R., Grimble, G., Preedy, V., Zibadi, S. (eds) Nutrition in Infancy. Nutrition and Health. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-254-4_2

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