Wilson disease is an autosomal recessive disorder of
copper transport, caused by the reduced or absent function of the
Wilson disease gene ATP7B on chromosome 13. The disease is characterized by reduced incorporation of
copper into the
ceruloplasmin protein and reduced excretion of
copper into the bile.
Wilson disease is effectively treated if detected early. Our study goals were to determine the feasibility of a population screening for
Wilson disease using dried blood spots and to characterize the base-line
ceruloplasmin concentration in newborn blood spots of patients with
Wilson disease.
Ceruloplasmin was analyzed in dried blood spots obtained from 353 Mayo Clinic pediatric volunteers aged from 3 months to 18 years and from 1045 anonymous newborn screening specimens using a sandwich
enzyme-linked
immunosorbent assay. The original newborn screening blood spots were retrieved from two patients with
Wilson disease along with age-matched controls for
ceruloplasmin determination. The mean (+/-SD) concentration of
ceruloplasmin in the pediatric blood spots was 40.0+/-14.4 mg/dL (range 13.1 to >60 mg/dL) and newborn blood spots was 47.2+/-15.5mg/dL (range 6.5 to >60 mg/dL).
Ceruloplasmin in the newborn blood spots from two
Wilson disease patients were 2.6 and 2.8 mg/dL, respectively. The newborns affected with
Wilson disease had significantly lower
ceruloplasmin levels in blood spots than unaffected newborns. These findings support that presymptomatic screening for
Wilson disease using dried blood spots could be possible, even in the newborn period.