Studies on copper metabolism XXIX: A critical analysis of serum copper and ceruloplasmin concentrations in normal subjects, patients with Wilson's disease and relatives of patients with Wilson's disease

Abstract

1. 1. Total copper and ceruloplasmin concentrations have been determined in the serums of normal subjects, patients with Wilson's disease and relatives of patients with Wilson's disease. 2. 2. Total serum copper was determined in 205 normal subjects. The mean value ±1 standard deviation (S.D.) was 114 ± 17.4 μg./100 ml. In two subjects the values were 68 μg./100 ml. The mean value ± 1 S.D. in thirty-six patients with Wilson's disease was 61 ± 20.8 μg./100 ml. In seven patients the values were within 2 S.D. of the normal mean. Five normal relatives of patients with Wilson's disease were found to have serum copper values below 79 μg./100 ml. 3. 3. Calculation of ceruloplasmin values from the 205 normal serum copper values gave a normal range, defined as ±2 S.D., of 23 to 44 mg./100 ml. Ceruloplasmin was measured immunologically in ten normal subjects. The mean value ±1 S.D. was 34 ± 4.0 mg./100 ml. The immunologically determined values for ceruloplasmin in the two normal subjects with low serum copper values were 14 to 22 mg./100 ml. By the same method the mean value ±1 S.D. in twenty-eight patients with Wilson's disease was 9 ± 5.2 mg./100 ml. In all twenty-eight patients the value was less than 23 mg./100 ml. Ceruloplasmin values between 19 and 23 mg./100 ml. were observed in eight normal relatives of patients with Wilson's disease. 4. 4. Within the group of patients studied there was poor correlation between the ceruloplasmin concentration and the duration and severity of the clinical manifestations. 5. 5. It is suggested that a decreased concentration of ceruloplasmin is not the single uncomplicated determinant of the disease.