A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

Journal Article (Journal Article)

Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype of glycogen storage disease type IV who presented with polyhydramnios, hydrops fetalis, bilateral ankle contractures, biventricular cardiac dysfunction, and severe facial and extremity weakness. A muscle biopsy showed the presence of material with histochemical and ultrastructural characteristics consistent with amylopectin. Biochemical analysis demonstrated severely reduced branching enzyme activity in muscle tissue and fibroblasts. Genetic analysis demonstrated a novel deletion of exon 16 within GBE1, the gene associated with glycogen storage disease type IV. Continued genetic characterization of glycogen storage disease type IV patients may aid in predicting clinical outcomes in these patients and may also help in identifying treatment strategies for this potentially devastating metabolic disorder.

Full Text

Duke Authors

Cited Authors

  • Raju, GP; Li, H-C; Bali, DS; Chen, Y-T; Urion, DK; Lidov, HGW; Kang, PB

Published Date

  • March 2008

Published In

Volume / Issue

  • 23 / 3

Start / End Page

  • 349 - 352

PubMed ID

  • 18230843

International Standard Serial Number (ISSN)

  • 0883-0738

Digital Object Identifier (DOI)

  • 10.1177/0883073807309248


  • eng

Conference Location

  • United States