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A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

Department of Neurology, Children's Hospital Boston and Harvard Medical School

Hsin-Chang Li, PhD

School of Nutrition and Health Sciences, Taipei Medical University, Taiwan

Deeksha S. Bali, PhD

Division of Medical Genetics and Department of Pediatrics, Duke University Medical Center, Durham, NC

Yuan-Tsong Chen, MD, PhD

Division of Medical Genetics and Department of Pediatrics, Duke University Medical Center, Durham, NC

David K. Urion, MD

Department of Neurology, Children's Hospital Boston and Harvard Medical School

Hart G. W. Lidov, MD, PhD

Department of Pathology Children's Hospital Boston and Harvard Medical School, Boston, MA

Peter B. Kang, MD

Department of Neurology, Children's Hospital Boston and Harvard Medical School, peter.kang{at}childrens.harvard.edu

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.

Key Words: glycogen storage disease type IV • GBE1 • glycogen branching enzyme

This version was published on March 1, 2008

Journal of Child Neurology, Vol. 23, No. 3, 349-352 (2008)
DOI: 10.1177/0883073807309248


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