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

Anna Bogdańska; Dariusz Kozłowski; Magdalena Pajdowska; Patryk Lipiński; Anna Tylki-Szymańska

doi:10.18388/abp.2020_5576

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

Anna Bogdańska Department of Biochemistry, Radioimmunology and Experimental Medicine, Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-3455-3522
Dariusz Kozłowski Department of Biochemistry, Radioimmunology and Experimental Medicine, Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0001-8638-6706
Magdalena Pajdowska Department of Biochemistry, Radioimmunology and Experimental Medicine, Children’s Memorial Health Institute, Warsaw, Poland
Patryk Lipiński Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Anna Tylki-Szymańska Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-8935-1768

DOI: https://doi.org/10.18388/abp.2020_5576

Abstract

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.

pdf
html

Published

2021-03-05

Issue

Vol. 68 No. 1 (2021)

Section

Articles

Acta Biochimica Polonica is an OpenAccess quarterly and publishes four issues a year. All contents are distributed under the Creative Commons Attribution-ShareAlike 4.0 International (CC BY 4.0) license. Everybody may use the content following terms: Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.