Possible prenatal diagnosis of type III glycogenosis.
This paper reports the first prenatal diagnosis in a pregnancy at risk for type III glycogenosis using a reliable test for amylo-1,6-glucosidase in cultured amniotic fluid cells. This test, based upon the different rates of glycogen and phosphorylase limit dextrin hydrolysis, was found to be more reliable in detecting a deficiency of amylo-1,6-glucosidase activity than either phosphorylase limit dextrin hydrolysis alone or [14C]glucose incorporation using leukocytes and cultured cells.
D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D004796:Clinical Enzyme Tests; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005964:Glucosyltransferases / Q000378:metabolism*; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk
D006004:Glycogen Debranching Enzyme System; D005964:Glucosyltransferases