ABSTRACT
Wilson's disease [WD] is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not available from Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patients admitted with primary and secondary diagnosis of Wilson's disease were added. A total of 47 patients were seen; 68% [n = 32] were male. The mean age was 26.6 +/- 9.97 years. Most of the patients presented with hepatic, [n = 22, 46.8%], neurological, [n = 17, 36.2%] and psychiatric [n = 8, 17%] symptoms. Mean ceruloplasmin level was 0.17 +/- 0.13 g/dl; it was < 0.25 g/dl in 39 [86.6%] patients. Serum copper [Cu] was reduced in 32 [68.1%] patients and 24-hr-urinary Cu was raised in 22 [47.6%] patients. Slit lamp examination for Kayser-Fleischer [KF] rings was done on 15 [31.9%] patients and 9 [60%] of them had KF rings. Mean serum aspartate transaminase [AST] / alanine transaminases [ALT] ratio was 1.92 and median alkaline phosphatase / total bilirubin ratio was 79.30 [IQR 35.05; 166.50]