Wilson M.
Description | Copper in the serum (mostly ↓, usually < 11,8 µmol/l or 750 µg/l), in 24-hour urine (↑, usually > 100 µg/day), coeruloplasmin in the serum (mostly severely ↓, usually < 15 mg/dl), copper excretion before and after administering of D-penicillamine (4 x 250 mg orally in 24 hours), alkaline phosphatase ↓, hemolysis parameter, urine protein-SDS-electrophoresis. Molecular-genetic evaluation possible (sequencing of the ATP7B-gene, 250 different mutations, the most common being the H1069Q mutation) |