title: Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease.
abstract: A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay-Sachs, GM1-gangliosidosis and Fabry disease) is presented. This microassay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay-Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.
mesh_terms: D000653:Amniotic Fluid / Q000201:enzymology; D002478:Cells, Cultured; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005453:Fluorescence; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000201:enzymology; D000519:alpha-Galactosidase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D006596:Hexosaminidases; D000519:alpha-Galactosidase; D001616:beta-Galactosidase