Naslov
Sialidosis type I - biochemical and medical aspects

Autori
Varljen, Jadranka ; Marković, Dubravko ; Sepčić, Juraj ; Kirigin, Mladenka ; Milin, Čedomila

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

Izvornik
Abstracts / - Ljubljana, 1987

Skup
18th FEBS Meeting

Mjesto i datum
Ljubljana, Slovenija, 28.06.1987. - 03.07.1987

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Sialidosis type I

Sažetak
Two juvenile patients, cousins, with macular cherry-red spots, progressive myoclonic epilepsy and without dementia have been found in the autochthonous family from Istra (Croatia). Pathohistologic investigations proved storage disease. Skin fibroblasts culture of both patients, using a fetuin as substrate showed a complete deficiency of an alpha (2-6) neuraminidase. The activity of other lysosomal enzymes and beta-galactosidase was within the normal values. In both patients and seven of their relatives, the increased urinary excreting of sialyloligosaccharides was determinated using a thin layer chromatography. A minor quantity of sialyloligosaccharides was also discovered in the cousin's urine, where a nephrophaty with terminal renal insufficiency appeared, but without any neurological simptoms, while her brother and sister died of the identical illnes.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA