title: Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
abstract: Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: H K
authors.initials: HK
authors.lastname: Park
authors.forename: H H
authors.initials: HH
authors.lastname: Kay
authors.forename: A
authors.initials: A
authors.lastname: McConkie-Rosell
authors.forename: J
authors.initials: J
authors.lastname: Lanman
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D015193:Chorionic Villi Sampling; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008320:Maltose; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D013997:Time Factors; D000520:alpha-Glucosidases / Q000032:analysis
chemical_list: D008320:Maltose; D000520:alpha-Glucosidases