Naslov
Congenital disorders of glycosylation and implementation of project Euroglycanet in Croatia

Autori
Petković Ramadža, Danijela ; Bilić, Karmen ; Ćuk, Martin ; Fumić, Ksenija ; Barić, Ivo.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Paediatria Croatica, Abstract book of the 8th Balkan congress on human genetics, Cavtat / Barišić, Ingeborg - Zagreb : Denona, 2009, 48-49

Skup
8th Balcan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska; Dubrovnik, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
congenital disorders of glycosylation; isoelectric focusing of transferrin

Sažetak
Congenital disorders of glycosylation are a group of heterogeneous diseases which comprises two different types of disorders. N-glycosylation disorders are multisystem diseases and in most of them central nervous system is affected. Until now, 18 different subtypes have been described. Main features are psychomotor retardation, seizures, ataxia, dysmorphic features, liver fibrosis, coagulopathies, endocrinopathies and failure to thrive. For most of them a useful screening method - isoelectric focusing (IEF) of transferrin is available. Unfortunately, for most disorders from this group there is no efficient treatment. The other group, O-glycosylation disorders, includes diverse diseases as there is much more variability in O-glycan structures. Adequate screening methods for these disorders still need to be established. Project » ; Euroglycanet« ; (financed by European Commission) has been established by a group of European medical doctors, geneticists and glycobiologists in order to improve awareness, scientific research, diagnostic procedures and treatment of congenital disorders of glycosylation. Our group joined the network about four years ago. Since then IEF of serum transferrin has been established as a valuable screening method and until now about 300 samples have been analyzed. Also, neuraminidase test was introduced to exclude transferrin polymorphisms that are known to alter IEF pattern. About 25 neuraminidase tests were performed on initially positive samples. Among 300 patients tested only one sample was positive, but no further investigations were performed due to the patient’ s death. After finalizing the project IEF of transferrin will remain a routine method in our laboratory which serves as a referral center for the whole country.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA