A 14-year-old boy from a consanguineous Kashmiri family presents with progressive tremor, dysarthria, and behavioral changes over 6 months. His parents are first cousins. Slit-lamp examination reveals golden-brown corneal deposits. Serum ceruloplasmin is 12 mg/dL (normal >20), and 24-hour urinary copper is 180 micrograms. The inheritance pattern marked **A** in the pedigree diagram is consistent with which genetic mechanism underlying this patient's condition?
Ready to test yourself?
Test your Medicine knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Wilson Disease MCQs with AI-powered explanations tailored to your performance.
Create Free Account