Caeruloplasmin isoforms in Wilson’s disease in neonates

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 an...

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Bibliographic Details
Published in:Archives of disease in childhood. Fetal and neonatal edition 1998-11, Vol.79 (3), p.F198-F201
Main Authors: Chowrimootoo, G F E, Scowcroft, H, Seymour, Carol A
Format: Article
Language:English
Subjects:
Adult
Antioxidants - metabolism
Biological and medical sciences
Biomarkers - blood
Blotting, Western
caeruloplasmin isoforms
Ceruloplasmin - analysis
Copper
copper excretion
Densitometry
Electrophoresis, Polyacrylamide Gel
Errors of metabolism
Fetal Blood - chemistry
Hepatolenticular Degeneration - diagnosis
Humans
Infant, Newborn
Medical sciences
Metabolic diseases
Metabolism
Middle Aged
Miscellaneous hereditary metabolic disorders
Neonates
Original
Plasma
Protein Isoforms - blood
Proteins
R&D
Research & development
Wilson’s disease
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Summary: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.
ISSN:1359-2998
1468-2052
DOI:10.1136/fn.79.3.F198