Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes.
Lysosomal and plasma membrane sialidase activities in lymphocytes were studied in four patients with sialidosis with partial beta-galactosidase deficiency, four obligate heterozygotes, and three siblings of a patient. Lysosomal sialidase activity in homozygotes was absent, and that in heterozygotes was significantly decreased to 70% of control level. The results indicate that carriers can be detected by the assay of lysosomal sialidase activity of lymphocytes.
D000328:Adult; D002462:Cell Membrane / Q000201:enzymology; D006580:Genetic Carrier Screening; D006801:Humans; D007787:Lactose Intolerance / Q000235:genetics*; D008214:Lymphocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009439:Neuraminidase / Q000032:analysis / Q000172:deficiency / Q000235:genetics*
D009439:Neuraminidase