Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Published

Journal Article

Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Current methods for prenatal and postnatal diagnosis are based on an indirect method of measuring the enzyme activity, which has a limited sensitivity and cannot be used to distinguish patients with these variable clinical phenotypes. In this study, a GSD-IV family with a non-progressive hepatic form of the disease requested prenatal diagnosis. Determination of the branching enzyme activity in cultivated amniocytes showed 20 per cent residual activity overlapping with the level detected in the heterozygotes. Mutation analysis revealed that the fetus carried two mutant alleles, L224P and Y329S, the same as the proband of this family. The fetus was predicted to be affected and postnatally his clinical presentation is consistent with the diagnosis. We conclude that DNA mutation analysis should be used in the prenatal diagnosis of GSD-IV, especially in the situation of high residual enzyme activity.

Full Text

Duke Authors

Cited Authors

  • Shen, J; Liu, HM; McConkie-Rosell, A; Chen, YT

Published Date

  • September 1999

Published In

Volume / Issue

  • 19 / 9

Start / End Page

  • 837 - 839

PubMed ID

  • 10521841

Pubmed Central ID

  • 10521841

International Standard Serial Number (ISSN)

  • 0197-3851

Language

  • eng

Conference Location

  • England