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Case Reports
. 1987;10(1):18-23.
doi: 10.1007/BF01799483.

Biochemical study of sialidosis type I in a Russian family

I V Tsvetkova, N A Petushkova, T V Zolotuchina, V I Kucharenko, E L Rosenfeld
Case Reports

Biochemical study of sialidosis type I in a Russian family

I V Tsvetkova et al. J Inherit Metab Dis. 1987.

Abstract

A 7-year-old boy from a Russian family with decreased vision and a cherry-red spot but without any somatic and mental abnormalities is described in this paper. The decreased neuraminidase activity in the child's leukocytes and cultured skin fibroblasts and his 10-fold increase in urinary sialyloligosaccharides allowed us to conclude that he was affected by type I sialidosis. Some other results of the biochemical study of this child and his parents are presented. It is the first case of sialidosis in the Russian population.

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