Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Park, HK; Kay, HH; McConkie-Rosell, A; Lanman, J; Chen, YT

Published Date

  • March 1992

Published In

Volume / Issue

  • 12 / 3

Start / End Page

  • 169 - 173

PubMed ID

  • 1589418

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/pd.1970120305


  • eng

Conference Location

  • England