Definition

Wilson disease (WD) is an inherited disorder of copper metabolism, transmitted as an autosomal recessive trait. This type of inheritance means unaffected parents who each carry the WD gene have a 25% risk in each pregnancy of having an affected child. The disorder is caused by a defective copper-binding protein found primarily in the liver, which leads to excess copper circulating through the bloodstream. Over time, the copper is deposited and increased to toxic levels in various body tissues, especially the liver, brain, kidney, and cornea of the eye. Left untreated, WD is invariably fatal.

Description

In 1912, Dr. Samuel Kinnear Wilson described a disorder he called "progressive lenticular degeneration." He noted the familial nature of the condition, and also that it was likely to be caused by a toxin affecting the liver. The toxin was later discovered to be excess copper. Another,