Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation | Zendy

Anna Bogdańska | Zendy; Dariusz Kozłowski | Zendy; Magdalena Pajdowska | Zendy; Patryk Lipiński | Zendy; Anna TylkiSzymańska | Zendy

Open Access

Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation

Author(s) -

Anna Bogdańska,

Dariusz Kozłowski,

Magdalena Pajdowska,

Patryk Lipiński,

Anna TylkiSzymańska

Publication year - 2021

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2020_5576

Subject(s) - isoelectric focusing , transferrin , dried blood spot , dried blood , glycosylation , glycoprotein , spots , carbohydrate deficient transferrin , gene isoform , chemistry , medicine , chromatography , biochemistry , pathology , gene , enzyme , alcohol , alcohol consumption

Congenital disorders of glycosylation (CDG) are a growing, heterogeneous group of genetic disorders caused by a defect in the glycoprotein synthesis. The first and still widely used method for routine CDG screening was isoelectric focusing (IEF) of serum transferrin. Dried blood spot (DBS) testing is commonly used in newborn screening procedures to detect inborn errors of metabolism. The aim of this study was to demonstrate the reliability of the IEF method in DBS testing. Dried blood spot testing can help in the postmortem diagnosis of CDG disorders when other material is unavailable. The patterns and concentrations of transferrin isoforms in serum and DBS are comparable, and slight differences do not affect interpretation of results.

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