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Arch Dis Child Fetal Neonatal Ed 1998;79:F198-F201 ( November )

Caeruloplasmin isoforms in Wilson's disease in neonates

G F E Chowrimootoo, H Scowcroft, Carol A Seymour

Division of Cardiological Sciences (Metabolic Medicine), St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE

Correspondence to: Professor Carol A Seymour. Email: cseymour{at}sghms.ac.uk


Accepted 30 March 1998

Aim---To investigate the neonatal diagnosis of Wilson's disease from caeruloplasmin isoforms in cord blood.
METHODS---Serum caeruloplasmin isoforms were measured in 5-10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine.
RESULTS---Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson's disease. Sera from healthy neonates and from those with Wilson's disease had reduced biliary isoforms.
CONCLUSION---Identification of caeruloplasmin isoforms may be a marker for Wilson's disease in neonates.

Keywords: caeruloplasmin isoforms; Wilson's disease; copper excretion

© 1998 by Archives of Disease in Childhood




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