Wilson disease is a rare inherited disorder that causes excess copper to accumulate in the body. It is also known as hepatolenticular degeneration. Steadily increasing amounts of copper circulating in the blood are deposited primarily in the brain, liver, kidneys, and the cornea of the eyes. WD is fatal if it is not recognized and treated. It is named for a U.S. neurologist, Samuel A. K. Wilson, who first described it in 1912.
Wilson disease is an autosomal recessive disease, which means it occurs equally in men and women. In order to inherit Wilson disease, both parents must carry one genetic mutation (abnormal alteration in the gene) that each parent passes to the affected child. At least one in 30,000 people of all known races and nationalities has the disease. Of the 23 different human chromosomes, the gene responsible for Wilson disease is located on chromosome 13. The gene is called ATP7B and it contains the genetic information necessary to make a copper transport protein that plays a key role in incorporating copper into ceruloplasmin and moving excess copper out of the liver.
Treatment involves life-long administration of either D-penicillamine (Cuprimine, Depen) or trientine hydrochloride (Syprine). Both of these drugs remove copper deposits throughout the body by binding to the copper which then leaves the body in the urine. This type of treatment is called chelation therapy. Zinc acetate (Galzin) and a low copper diet are other ways in which to treat Wilson disease. Finally, patients with Wilson disease are encouraged to follow a diet low in copper, with an average copper intake of 1.0 mg per day.
Longe, Jacqueline L., ed. "Wilson Disease." The Gale Encyclopedia of Medicine. N.p., n.d. Web. 22
May 2013. This database has provided information about the symptoms, inheritance patterns, and
treatments of the Wilson disease.
Magill. "Wilson's Disease." Medical Guide. California USA: Salem Press Inc, 2008. 2885-86. Print.
This book provides information about treatments and symptoms of the disease known as the Wilson
Wilson's Disease Association. N.p., n.d. Web. 22 May 2013. <http://www.wilsonsdisease.org/
wilson-disease/wilsondisease-inheritance.php>. This website provided information about the