Copper And Copositio Wilson Disease Case Study

Copper is an essential trace mineral for the body. Copper is a core component of proteins and metalloenzymes which perform essential metabolic functions. It is necessary for proper growth, development and maintenance of bone, connective tissue, brain, heart and other body organs. Copper is involved in absorption of iron, metabolism of cholesterol and glucose. Copper has a role in synthesis and release of proteins and enzymes involved in cellular energy, nerve regulation, blood clotting and oxygen transport. Copper stimulates immune system, repairing injured tissues and in healing. Copper helps to neutralize free radicals which cause damage to cells.

The human body has complex homeostatic mechanisms by which a constant supply of copper is maintained, while eliminating the excess copper absorbed from food. The Absorption of copper depends on the copper content, form of the copper and

WD has an autosomal recessive mode of inheritance [4]. In this condition, copper accumulates in liver, brain, kidney, bones, joints, cornea and other organs resulting in hepatic, neurological / psychiatric, eye and other manifestations [5]. Wilson disease has a worldwide frequency of between 1 in 35,000 and 1 in 1,00,000 live births with a carrier rate of 1 in 90 [6 ,7]. WD disease is caused by mutations in a gene called ATP7B gene which has the genetic material to make copper transporting protein (ATPase) [8]. This is a trans-membrane protein of the Golgi network, responsible to remove excess copper out of the cell through ceruloplasmin. Mutations in ATP7B gene lead to an abnormal ATPase protein which is incapable of removing excess copper leading to its accumulation in different tissues. So far 500 mutations have been reported [9]. The consequences can be very fatal, if not diagnosed and treated properly as it can lead to irreversible damage to brain and liver