Prenatal diagnosis of glycogen storage disease type IV

H. Orhan Akman, Charalampos Karadimas, Yolanda Gyftodimou, Maria Grigoriadou, Haris Kokotas, Anastasia Konstantinidou, Hector Anninos, Efstratios Patsouris, Harshwardhan M. Thaker, Jeffrey B. Kaplan, Isaam Besharat, Konstantina Hatzikonstantinou, Spyridon Fotopoulos, Salvatore DiMauro, Michael B. Petersen

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Background: Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells. Methods: Two unrelated probands with severe hypotonia at birth and death during the neonatal period were diagnosed with GSD-IV on the basis of postmortem histological findings. DNA analysis revealed truncating GBE1 mutations in both families. Results: Prenatal diagnosis was performed in subsequent pregnancies by determination of branching enzyme activity and DNA analysis of CV or cultured amniocytes. Detailed autopsies of the affected fetuses at 14 and 24 weeks of gestation demonstrated intracellular inclusions of abnormal glycogen characteristic of GSD-IV. Conclusion: Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases.

Original languageEnglish (US)
Pages (from-to)951-955
Number of pages5
JournalPrenatal Diagnosis
Issue number10
StatePublished - Oct 2006
Externally publishedYes


  • DNA analysis
  • GBE1
  • Glycogen storage disease type IV
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


Dive into the research topics of 'Prenatal diagnosis of glycogen storage disease type IV'. Together they form a unique fingerprint.

Cite this