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Inborn Metabolic Diseases pp 493–505Cite as

Genetic Defects of the Metabolism of Magnesium, Zinc, Manganese, Molybdenum, and Selenium

Hypomagnesemia, Acrodermatitis Enteropathica, Prolidase Deficiency, Combined Deficiency of Sulfite Oxidase, and Xanthine Oxidase

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Summary

Primary hypomagnesemia, caused by a defective intestinal Mg absorption, results in tetanic convulsions starting during the 1st months of life. Besides hypomagnesemia, hypocalcemia is the main biochemical feature. By high-dose Mg supplementation alone clinical and biochemical findings can be normalized. Patients with familial Mg-losing kidney show different clinical pictures and biochemical data, which mainly vary from normal to tetanic convulsions, muscular weakness, and/or nephrocalcinosis. Hypomagnesemia can be combined with hypocalcemia or hypokalemia and is due to an inappropriate tubular reabsorption. Magnesium supplementation not always results in a normalization of the biochemical data and amelioration of the clinical course.

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Authors
  1. I. Lombeck
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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Lombeck, I. (1990). Genetic Defects of the Metabolism of Magnesium, Zinc, Manganese, Molybdenum, and Selenium. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_37

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_37

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

  • eBook Packages: Springer Book Archive

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