title: Biochemical study of sialidosis type I in a Russian family.
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.
mesh_terms: D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D019158:N-Acetylneuraminic Acid; D009439:Neuraminidase / Q000032:analysis / Q000172:deficiency*; D009844:Oligosaccharides / Q000032:analysis; D012794:Sialic Acids / Q000032:analysis
chemical_list: D009844:Oligosaccharides; D012794:Sialic Acids; C016735:sialooligosaccharides; D009439:Neuraminidase; D019158:N-Acetylneuraminic Acid