In:
cclm, Walter de Gruyter GmbH, Vol. 38, No. 10 ( 2000-10-16), p. 965-969
Abstract:
Congenital disorders of glycosylation (CDG) are genetic
multisystemic diseases due to various defects in the biosynthesis or processing of glycoproteins. Our
aim is to present our experience in the selective screening of CDG syndrome in a paediatric population
(421 patients) with clinical suspicion of the disease, analysing serum carbohydrate-deficient transferrin
(CDT) by radioimmunoassay and/or immunoturbidimetry. We established the normal values for our
paediatric population. The abnormal results were confirmed and classified by isoelectric focusing of serum
sialotransferrins, and by enzymatic and molecular studies. We found 14 patients (3.3%) with abnormal
serum CDT; 11 of them were classified as CDG type Ia (CDG-Ia) and the other three showed altered isoelectrofocusing
patterns but remain untyped and are under investigation. In conclusion, both CDT assays
proved to be useful tools for CDG screening. Isoelectric focusing is a simple procedure but it requires specific
instruments that are not always available. Since the immunoturbidimetric procedure is commonly used to
monitor for recent excessive alcohol consumption in clinical laboratories and does not require special
equipment, it may also be reliably used to screen for CDG in children under clinical suspicion.
Type of Medium:
Online Resource
ISSN:
1434-6621
DOI:
10.1515/CCLM.2000.143
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2000
detail.hit.zdb_id:
1492732-9
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