title: [Copper metabolism and genetic disorders].
abstract: Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease. In this paper, the author describes about copper metabolism of human, and clinical feature, diagnosis and treatment of Menkes disease and Wilson disease.
authors.forename: Norikazu
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D003300:Copper / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D011379:Prognosis
chemical_list: D003300:Copper