engleski

Sialidosis type I - biochemical and medical aspects

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.

Sialidosis type I

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