Diagnostic Criteria and Clinical Characteristics
Genetic diagnosis: identification of two disease-causing mutations in ATP7B (80% of patients are compound heterozygotes) or identification of homozygosity for one disease-causing mutation
Clinical diagnosis: presence of hepatic or neurologic disorder consistent with WD + basal 24-hour urinary copper excretion greater than 0.6 μmol/d (>40 μg/d) + hepatic parenchymal copper concentration greater than 250 μg/g dry wgt
Serum ceruloplasmin less than 50 mg/L is highly supportive of the diagnosis; serum ceruloplasmin less than 140 mg/L is highly consistent with the diagnosis; serum ceruloplasmin greater than 140 mg/L is still compatible with the diagnosis (serum ceruloplasmin may be normal).
Employing greater than 0.6 ...
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