title: Lysosomal enzyme activities among Chinese: leukocyte alpha-galactosidase and beta-galactosidase.
abstract: alpha-Galactosidase and beta-galactosidase activities have been determined in leukocyte preparations from 100 randomly selected Chinese adults. For alpha-galactosidase, two groups with low activities were identified: group I consisted of 3 females having activities below 40% of normal, and group II consisted of 5 males and 1 female with activities about 60% of normal. Family studies suggested that these low alpha-galactosidase activities are genetically determined. Only 1 individual was found to have about 50% of normal beta-galactosidase activity; presumably he is a carrier for beta-galactosidase deficiency (GM1 gangliosidosis).
authors.affiliation: Department of Pediatrics, University of Southern California School of Medicine, Los Angeles.
authors.forename: Y K
authors.initials: YK
authors.lastname: Xu
authors.forename: W G
authors.initials: WG
authors.lastname: Ng
mesh_terms: D000328:Adult; D002681:China / Q000208:ethnology; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005677:G(M1) Ganglioside; D005696:Galactosidases / Q000097:blood*; D005733:Gangliosidoses / Q000201:enzymology / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D010375:Pedigree; D014481:United States; D000519:alpha-Galactosidase / Q000097:blood*; D001616:beta-Galactosidase / Q000097:blood* / Q000172:deficiency
chemical_list: D005677:G(M1) Ganglioside; D005696:Galactosidases; D000519:alpha-Galactosidase; D001616:beta-Galactosidase