Wilson Disease

A 22-year-old male from Mumbai presents with progressive tremor of both hands, slurred speech, and difficulty swallowing for the past 6 months. His mother reports he was a bright student until 2 years ago, when his academic performance declined. On examination, he has a coarse tremor at rest, rigidity, and dysarthria. Slit-lamp examination reveals a greenish-brown ring at the Descemet's membrane. Serum ceruloplasmin is 12 mg/dL (normal 20–40 mg/dL), and 24-hour urinary copper excretion is 180 µg/day (normal <50 µg/day). What is the pathophysiological basis of the neurological manifestations in this patient?

Which copper-binding protein is deficient in Wilson disease, leading to impaired biliary excretion of copper?

In Wilson disease, which of the following is the primary mechanism by which accumulated copper causes hepatocellular injury?

A 19-year-old female from Bangalore presents with jaundice, abdominal pain, and hemolytic anemia. Laboratory investigations show total bilirubin 8.2 mg/dL (direct 6.1 mg/dL), ALT 320 U/L, AST 280 U/L, hemoglobin 8.5 g/dL with schistocytes on blood smear, and reticulocyte count 12%. Serum ceruloplasmin is 14 mg/dL, and slit-lamp examination reveals Kayser-Fleischer rings. Abdominal ultrasound shows hepatomegaly with normal portal vein. What is the mechanism of hemolysis in this patient?