Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood

Autor: L. J. M. Spaapen, M. H. Velmans, Jaap A. Bakker, J.A. van Pelt
Rok vydání: 1996
Předmět:
Zdroj: Journal of Inherited Metabolic Disease. 19:253-256
ISSN: 1573-2665
0141-8955
DOI: 10.1007/bf01799443
Popis: The carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly defined inherited multisystemic disease with severe nervous system involvement. Since the initial report in 1980 by Jaeken et al more than 120 patients all over the world have been described. The clinical features can be very severe and several subtypes have been recognized. The biochemical hallmark is defective glycosylation of transferrin, although a variety of other glycoproteins is affected. The reduced glycosylation and sialylation can be made visible by isoelectric focusing (IEF) as a cathodal shift of the transferrin isoforms (Jaeken et al 1993). Evidence is increasing that the basic defect in CDGS type I results in a lack of one or more complete N-linked carbohydrate chains of glycoproteins, rather than in incomplete chains, which is the case in CDGS type II (Powell et al 1994). As CDGS occurs relatively frequently, a (semi-)automated biochemical test rather than IEF would be advantageous. We therefore investigated the possibility of using a commercially available test for the analysis of carbohydrate-deficient transferrin (CDT). This CDTect test has been developed for the detection of chronic alcohol abuse (Stibler 1991) and measures the amount of a-, mono- and disialotransferrin isoforms by an immunochemical, non-radioactive method. Analyses were carried out in umbilical cord blood and neonatal blood samples in order to collect reference values for use of CDTect in screening for CDGS.
Databáze: OpenAIRE
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