Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs.
It was shown that activities and isoenzyme patterns of alpha-L-fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (alpha-L-fucosidase deficiency), Tay-Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).
D001706:Biopsy; D002823:Chorion / Q000201:enzymology*; D002824:Chorionic Villi / Q000201:enzymology; D005260:Female; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000378:metabolism*; D007668:Kidney / Q000196:embryology* / Q000201:enzymology; D008099:Liver / Q000196:embryology* / Q000201:enzymology; D008168:Lung / Q000196:embryology* / Q000201:enzymology; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013106:Sphingolipidoses / Q000175:diagnosis; D005644:alpha-L-Fucosidase / Q000378:metabolism*
D007527:Isoenzymes; D006596:Hexosaminidases; D005644:alpha-L-Fucosidase