Mutations in the ATP7A gene, located on chromosome Xq21.1,[9] are the cause of Menkes syndrome.[10] This condition is inherited in an X-linked recessive pattern.[11] As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system such as lysyl oxidase.
Posted on: Wed, 31 Jul 2013 15:51:44 +0000
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