Hepatolenticular Degeneration
Hepatolenticular Degeneration, also known as Wilson's disease, is a genetic disorder that leads to excessive accumulation of copper in the body, particularly affecting the liver and brain. This condition is caused by mutations in the ATP7B gene, which impairs the body's ability to excrete copper, resulting in toxic levels that can damage organs.
Symptoms often appear in late childhood or early adulthood and may include liver dysfunction, neurological issues, and psychiatric symptoms. Early diagnosis and treatment, typically involving chelating agents like penicillamine, can help manage copper levels and prevent serious complications.