Wilson's disease results from mutation in ATP7B (copper-transporting ATPase) and manifests with all of the following EXCEPT:

• A Elevated serum ceruloplasmin with normal urinary copper ✓
• B Kayser-Fleischer rings in Descemet membrane of cornea
• C Low serum ceruloplasmin
• D Elevated serum copper with increased urinary copper

Explanation

Wilson's disease is characterised by low serum ceruloplasmin (<20 mg/dL) because ATP7B is required for incorporating copper into ceruloplasmin in the liver; copper accumulates in liver, brain, and cornea. Urinary copper is elevated (>100 µg/24h). KF rings represent copper deposits in Descemet's membrane. Elevated ceruloplasmin with normal urine copper is seen in inflammatory states (ceruloplasmin is an acute phase reactant) and is opposite to Wilson's disease.

Reference: Harper's Illustrated Biochemistry, 32nd ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.