What is a common feature that characterizes Wilson Disease?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Wilson Disease is primarily characterized by an accumulation of copper in the body, particularly in the liver and brain. This genetic disorder is caused by a defect in the ATP7B gene, which is responsible for copper transport. As a result, copper is not adequately excreted into bile or incorporated into ceruloplasmin, leading to toxic levels in the body. The accumulation can lead to serious health issues, including liver disease, neurological symptoms, and psychiatric problems.

The other choices do not relate to Wilson Disease. Iron deficiency is often seen in conditions related to hemoglobin production or nutritional deficits, not associated with copper metabolism. Sodium retention is typically linked to issues with the kidneys or hormonal imbalances, while calcium overload might relate to metabolic or endocrine disorders, neither of which are characteristic of Wilson Disease. Thus, copper accumulation distinctly pinpointing Wilson Disease aligns with its pathophysiology.

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