Abstract
Congenital disorders of glycosylation (CDG) are a growing group of genetic disorders caused by a deficient assembly or processing of glycoproteins. Our aim was to improve a western blotting detection procedure previously described and to assess the efficiency of this procedure for CDG screening, using isoelectric focusing (IEF) as the reference method. We analysed transferrin and haptoglobin in serum from 12 patients with CDG-Ia, 3 patients with CDG-X and 95 healthy paediatric controls. These proteins were also studied in dried blood spot samples. Reference values for our paediatric population were established. No differences (Mann–Whitney test) were observed in the percentage of low molecular weight transferrin and haptoglobin fractions according to sex and age of the controls. Densitometric analysis showed a high percentage of the less sialylated fractions of glycoproteins in all CDG-Ia patients and normal values in the CDG-X patients. In conclusion, western blotting with diaminobenzidine detection is a simple and sensitive procedure to screen for CDG, either in serum or blood spot samples. Densitometric analysis and the establishment of reference values might improve the detection of subtle changes in the glycosylation of proteins.
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