Lysosomal enzyme activities in frozen, non-cultured chorionic villi for prenatal diagnosis of enzymopathies.
Normal reference values of lysosomal enzyme activities (alpha-glucosidase, mannosidase, fucosidase and arylsulfatase-A) were determined in chorionic villi obtained from artificial abortion in the first trimester of normal pregnancies (gestational weeks 6 to 11). Villi were homogenized comparatively either in saline or in Triton X-100 detergent. The alpha-glucosidase, mannosidase and arylsulfatase-A enzyme activities significantly diminished if homogenization was done in saline instead of Triton-X while the difference in fucosidase activity was not significant. Significant correlation was detected between alpha-glucosidase activity and week of gestation. It is suggested that Triton X-100-homogenization should be used for the lysosomal enzyme determinations in chorionic villi because the solubilization of enzymes from the lysosomes is complete in this case than with homogenization in saline.
Clinical Chemistry Laboratory, A. Szent-Györgyi University Medical School, Szeged, Hungary.
M
M
Németh
A
A
László
A
A
Kovács
G
G
Falkay
D000028:Abortion, Induced; D002553:Cerebroside-Sulfatase / Q000032:analysis / Q000378:metabolism; D002824:Chorionic Villi / Q000201:enzymology*; D015193:Chorionic Villi Sampling; D005260:Female; D005865:Gestational Age; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006867:Hydrolases / Q000378:metabolism*; D007700:Kinetics; D008247:Lysosomes / Q000201:enzymology*; D008361:Mannosidases / Q000032:analysis / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D000520:alpha-Glucosidases / Q000032:analysis / Q000378:metabolism; D005644:alpha-L-Fucosidase / Q000032:analysis / Q000378:metabolism
D006867:Hydrolases; D002553:Cerebroside-Sulfatase; D008361:Mannosidases; D000520:alpha-Glucosidases; D005644:alpha-L-Fucosidase