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Genetic Disorders of Trace Element Metabolism

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Book cover Clinical Nutrition of the Essential Trace Elements and Minerals

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

Abstract

The spectrum of diseases which are passed on from parent to offspring i.e., the inherited or genetic diseases, encompasses most aspects of metabolism. The field of mineral metabolism is no exception and there exist a number of significant genetic abnormalities in humans affecting iron, copper, and zinc homeostasis. These diseases can lead to a deficiency of the metal in the tissues (e.g., Menkes disease — copper, acrodermatitis enteropathica — zinc) or an excess (e.g., hemochromatosis — iron, Wilson disease — copper) and thus can mimic the situations found in nutritional deficiency of the metal or those associated with excess exposure and toxicity. Although by their nature genetic disorders are often very rare, some are found in populations at sufficiently high frequencies that they represent a major health issue and can influence nutritional policies for the adequacy and safety of dietary trace element intake. The best example of this is the iron overload disease hemochromatosis, the most common of all autosomally inherited genetic diseases with an incidence in some populations as high as 1 in 250–300 (1,2). In populations where hemochromatosis is prevalent there have been active campaigns to prevent the fortification of dietary staples with iron since this will accelerate iron accumulation in susceptible members of the population.

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Authors
  1. Gregory J. Anderson MD
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  2. Gordon D. McLaren MD
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Editors and Affiliations

  1. Department of Preventive Medicine and Community Health, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA

    John D. Bogden PhD

  2. United States Department of Agriculture, Agricultural Research Service, Grand Forks Human Nutrition Research Center, Grand Forks, ND, USA

    Leslie M. Klevay MD, SD in Hyg

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Anderson, G.J., McLaren, G.D. (2000). Genetic Disorders of Trace Element Metabolism. In: Bogden, J.D., Klevay, L.M. (eds) Clinical Nutrition of the Essential Trace Elements and Minerals. Nutrition ◊ and ◊ Health. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-040-7_12

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  • DOI: https://doi.org/10.1007/978-1-59259-040-7_12

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