Our Experience with Diagnostics of Congenital Disorders of Glycosylation

Albahri, Ziad; Marklová, Eliška; Vaníček, Hubert; Minxová, Lenka; Dědek, Petr; Skálová, Sylva; Talábová, Marika; Vávrová, Jaroslava; Rencová, Eva

doi:10.14712/18059694.2018.103

Acta Medica > Archive > 2004, Vol. 47 > Issue 4 > Our Experience with Diagnostics of…

Acta Med. 2004, 47: 267-272

https://doi.org/10.14712/18059694.2018.103

Our Experience with Diagnostics of Congenital Disorders of Glycosylation

Ziad Albahri^a, Eliška Marklová^a, Hubert Vaníček^a, Lenka Minxová^a, Petr Dědek^a, Sylva Skálová^a, Marika Talábová^b, Jaroslava Vávrová^c, Eva Rencová^d

^aCharles University in Prague, Faculty of Medicine in Hradec Králové, Department of Paediatrics, Hradec Králové, Czech Republic
^bCharles University in Prague, Faculty of Medicine in Hradec Králové, Department of Neurology, Hradec Králové, Czech Republic
^cCharles University in Prague, Faculty of Medicine in Hradec Králové, Department of Clinical Chemistry, Hradec Králové, Czech Republic
^dCharles University in Prague, Faculty of Medicine in Hradec Králové, Department of Ophthalmology, Hradec Králové, Czech Republic

Received March 1, 2004
Accepted July 1, 2004

The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of 1) hypoglycosylation findings, 2) distribution of protein variants, 3) misguiding rare Tf variants found in our set, and 4) association of some phenotypes with various diseases.