rss
Arch Dis Child Fetal Neonatal Ed 1998;79:F198-F201 doi:10.1136/fn.79.3.F198
  • Original article

Caeruloplasmin isoforms in Wilson’s disease in neonates

  1. G F E Chowrimootoo,
  2. H Scowcroft,
  3. Carol A Seymour
  1. Division of Cardiological Sciences (Metabolic Medicine), St George’s Hospital Medical School, Cranmer Terrace, London SW17 ORE
  1. Professor Carol A Seymour. Email:cseymour{at}sghms.ac.uk
  • Accepted 30 March 1998

Abstract

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.

Footnotes

    This Article

    1. Abstract
    2. Full text
    3. PDF

    Responses

    1. Submit a response
    2. No responses published

    Register for free content

    The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.