Introduction

As a trace metal with several critical metabolic roles, copper is present throughout the brain (Warren et al., 1960) and other organs as an essential element needed for maintaining health. This vital mineral enters the body as a dietary component readily absorbed in the small intestine. The body's load of copper is largely stored in the liver and other visceral organs. Systemic organ load of copper is normally regulated by the ability of the biliary system to excrete excess quantities (Frommer, 1974; Gibbs & Walshe, 1980). A failure of the body's mechanisms for eliminating copper is the characteristic feature of an uncommon but distinctive systemic disorder originally termed progressive hepatolenticular degeneration, or Wilson's disease (WD). The latter eponym, now widely used for this disorder, credits the man who discovered much of what we know today and helps to avoid a mistaken notion that excess copper deposition affects only the liver and brain. WD's manifestations throughout the body can be variable from patient to patient, and can include features listed in Table 61.1. In nearly all cases, the liver is a major target of WD. Death from hepatic WD is usually inevitable unless decoppering therapy is instituted early enough. Other systemic manifestations of WD, including its propensity for neurological involvement, can vary greatly among patients. In the pediatric population, hepatic damage is often a presenting feature of the disorder, while neurological impairment becomes increasingly more common with onset in the second or third decades of life.