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Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc

  • Chapter
Inborn Metabolic Diseases

Abstract

Copper balance is disturbed in two inborn errors: Wilson disease and Menkes disease. Wilson disease, or hepatolenticular degeneration, is caused by mutations in the ATP7B gene and is characterised by a gradual accumulation of copper in the liver and, secondarily, in other organs, such as brain, kidney and cornea. Clinical symptoms result from copper accumulation in the liver and/or the brain. Early treatment with copper chelators or zinc is generally effective. Menkes disease is an X-linked disorder due to mutations in the ATP7A gene. The disorder is characterised by a general copper deficiency. Patients manifest progressive neurodegeneration, which is usually fatal in infancy or childhood. Early therapy with copper histidine can be effective in selected patients. Occipital horn syndrome and a rare phenotype, X-linked distal hereditary motor neuropathy, are also due to ATP7A mutations and can be observed in older children or adults.

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Authors and Affiliations

  1. Department of Paediatric Haematology/Oncology, Wilhelmina Children’s Hospital, Lundlaan 6, 3584, EA Utrecht, The Netherlands

    Marc Bierings

  2. Biochemistry Unit Institute of Child Health, Great Ormond Street Hospital for Sick Children, 30 Guilford Street, WC1N 1EH, London, UK

    Peter T. Clayton

  3. Department of Paediatric Gastroenterology, Wilhelmina Children’s Hospital University Medical Centre Utrecht, Lundlaan 6, 3584, EA Utrecht, The Netherlands

    Roderick H.J. Houwen

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  1. Marc Bierings
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  2. Peter T. Clayton
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  3. Roderick H.J. Houwen
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Bierings, M., Clayton, P.T., Houwen, R.H. (2012). Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_38

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_38

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