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

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.

• Authors: Anna Bogdańska, Dariusz Kozłowski, Magdalena Pajdowska, Patryk Lipiński, Anna Tylki-Szymańska
• Journal: Acta biochimica Polonica (Acta Biochim Pol) Vol. 68 Issue 1 Pg. 139-142 (Mar 05 2021) ISSN: 1734-154X [Electronic] Poland
• PMID: 33667052 (Publication Type: Journal Article)

Chemical References

• Protein Isoforms
• Transferrin

Topics

• Case-Control Studies
• Congenital Disorders of Glycosylation (blood, diagnosis)
• Dried Blood Spot Testing (methods)
• Humans
• Isoelectric Focusing (methods)
• Mass Screening (methods)
• Protein Isoforms (analysis)
• Reproducibility of Results
• Transferrin (analysis)