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

Publication ,  Journal Article
Shen, J; Liu, HM; McConkie-Rosell, A; Chen, YT
Published in: Prenat Diagn
September 1999

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.

Duke Scholars

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

September 1999

Volume

19

Issue

9

Start / End Page

837 / 839

Location

England

Related Subject Headings

  • Prenatal Diagnosis
  • Polymerase Chain Reaction
  • Obstetrics & Reproductive Medicine
  • Humans
  • Glycogen Storage Disease Type IV
  • Female
  • DNA Mutational Analysis
  • Child, Preschool
  • 3215 Reproductive medicine
  • 3202 Clinical sciences
 

Citation

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MLA
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Shen, J., Liu, H. M., McConkie-Rosell, A., & Chen, Y. T. (1999). Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn, 19(9), 837–839. https://doi.org/10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g
Shen, J., H. M. Liu, A. McConkie-Rosell, and Y. T. Chen. “Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.Prenat Diagn 19, no. 9 (September 1999): 837–39. https://doi.org/10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g.
Shen J, Liu HM, McConkie-Rosell A, Chen YT. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. 1999 Sep;19(9):837–9.
Shen, J., et al. “Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.Prenat Diagn, vol. 19, no. 9, Sept. 1999, pp. 837–39. Pubmed, doi:10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g.
Shen J, Liu HM, McConkie-Rosell A, Chen YT. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. 1999 Sep;19(9):837–839.
Journal cover image

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

September 1999

Volume

19

Issue

9

Start / End Page

837 / 839

Location

England

Related Subject Headings

  • Prenatal Diagnosis
  • Polymerase Chain Reaction
  • Obstetrics & Reproductive Medicine
  • Humans
  • Glycogen Storage Disease Type IV
  • Female
  • DNA Mutational Analysis
  • Child, Preschool
  • 3215 Reproductive medicine
  • 3202 Clinical sciences