Lysosomal enzyme activities among Chinese: leukocyte alpha-galactosidase and beta-galactosidase

Hum Hered. 1988;38(2):76-82. doi: 10.1159/000153762.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • China / ethnology
  • Fabry Disease / enzymology
  • Fabry Disease / genetics*
  • Female
  • G(M1) Ganglioside
  • Galactosidases / blood*
  • Gangliosidoses / enzymology
  • Gangliosidoses / genetics*
  • Genetic Carrier Screening
  • Humans
  • Leukocytes / enzymology*
  • Lysosomes / enzymology*
  • Male
  • Pedigree
  • United States
  • alpha-Galactosidase / blood*
  • beta-Galactosidase / blood*
  • beta-Galactosidase / deficiency

Substances

  • G(M1) Ganglioside
  • Galactosidases
  • alpha-Galactosidase
  • beta-Galactosidase