title: A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).
abstract: Prenatal diagnosis of type 2 glycogenosis (Pompe's disease) has been done on cultured amniotic fluid cells, using a semi-automated fluorimetric kinetic assay for alpha-D-glucosidase with 4-methylumbelliferyl-alpha-D-glucoside as substrate. The activity of the enzyme was related to that of beta-D-galactosidase, and found to be absent in cells from an affected fetus. The diagnosis was confirmed in fetal liver, where the same assay was used to show absence of alpha-D-glucosidase activity with normal beta-D-galactosidase activity, and where increased glycogen deposition was demonstrated histologically. This type of assay is generally applicable to lysosomal enzymes, and to other fluorigenic enzyme reactions.
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology*; D001322:Autoanalysis; D002478:Cells, Cultured; D005260:Female; D005959:Glucosidases / Q000032:analysis*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007700:Kinetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000520:alpha-Glucosidases / Q000032:analysis*; D001616:beta-Galactosidase / Q000032:analysis
chemical_list: D005959:Glucosidases; D000520:alpha-Glucosidases; D001616:beta-Galactosidase