Which disease is characterized by both copper accumulation and neurological symptoms?

Prepare for the NBEO Systemic Disease Exam. Use flashcards and multiple-choice questions to test your knowledge. Each question includes hints and explanations. Enhance your understanding and readiness for the exam.

Wilson's Disease is a genetic disorder that leads to the accumulation of copper in the body, particularly affecting the liver and the brain. This condition results from a defect in the ATP7B gene, which impairs the body's ability to excrete excess copper into bile. As copper builds up over time, it can cause hepatic and neurological symptoms.

The neurological symptoms of Wilson's Disease may include tremors, dystonia, difficulties with coordination, and psychiatric manifestations such as mood swings and cognitive decline. The liver damage is often reflected in symptoms such as jaundice and hepatomegaly, while the neurological complications arise from copper deposition in the brain, particularly in the basal ganglia.

In contrast, other conditions listed do not primarily involve copper accumulation nor do they typically exhibit neurological symptoms as a direct result. Hemochromatosis, for instance, is caused by iron overload rather than copper. Nonalcoholic fatty liver disease is related to fat accumulation in the liver, and cirrhosis is a result of chronic liver damage that can arise from various causes but is not specifically linked to copper metabolism. Thus, Wilson's Disease is the correct answer due to its unique combination of copper accumulation and resulting neurological symptoms.

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