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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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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