Skip to main content
Journal cover image

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

Publication ,  Journal Article
Raju, GP; Li, H-C; Bali, DS; Chen, Y-T; Urion, DK; Lidov, HGW; Kang, PB
Published in: J Child Neurol
March 2008

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.

Duke Scholars

Published In

J Child Neurol

DOI

ISSN

0883-0738

Publication Date

March 2008

Volume

23

Issue

3

Start / End Page

349 / 352

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Neurology & Neurosurgery
  • Muscle, Skeletal
  • Male
  • Isoenzymes
  • Infant, Newborn
  • Humans
  • Glycogen Storage Disease Type IV
  • Fatal Outcome
  • Consanguinity
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Raju, G. P., Li, H.-C., Bali, D. S., Chen, Y.-T., Urion, D. K., Lidov, H. G. W., & Kang, P. B. (2008). A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol, 23(3), 349–352. https://doi.org/10.1177/0883073807309248
Raju, G Praveen, Hsin-Chang Li, Deeksha S. Bali, Yuan-Tsong Chen, David K. Urion, Hart G. W. Lidov, and Peter B. Kang. “A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.J Child Neurol 23, no. 3 (March 2008): 349–52. https://doi.org/10.1177/0883073807309248.
Raju GP, Li H-C, Bali DS, Chen Y-T, Urion DK, Lidov HGW, et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008 Mar;23(3):349–52.
Raju, G. Praveen, et al. “A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.J Child Neurol, vol. 23, no. 3, Mar. 2008, pp. 349–52. Pubmed, doi:10.1177/0883073807309248.
Raju GP, Li H-C, Bali DS, Chen Y-T, Urion DK, Lidov HGW, Kang PB. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008 Mar;23(3):349–352.
Journal cover image

Published In

J Child Neurol

DOI

ISSN

0883-0738

Publication Date

March 2008

Volume

23

Issue

3

Start / End Page

349 / 352

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Neurology & Neurosurgery
  • Muscle, Skeletal
  • Male
  • Isoenzymes
  • Infant, Newborn
  • Humans
  • Glycogen Storage Disease Type IV
  • Fatal Outcome
  • Consanguinity