Disorders in the transport of copper, iron, magnesium, manganese, selenium and zinc

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.