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A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
J Child Neurol. 2008 Mar; 23(3):349-52.JC

Abstract

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.

Authors+Show Affiliations

Department of Neurology, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

18230843

Citation

Raju, G Praveen, et al. "A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation." Journal of Child Neurology, vol. 23, no. 3, 2008, pp. 349-52.
Raju GP, Li HC, Bali DS, et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008;23(3):349-52.
Raju, G. P., Li, H. C., Bali, D. S., Chen, Y. T., Urion, D. K., Lidov, H. G., & Kang, P. B. (2008). A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. Journal of Child Neurology, 23(3), 349-52. https://doi.org/10.1177/0883073807309248
Raju GP, et al. A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation. J Child Neurol. 2008;23(3):349-52. PubMed PMID: 18230843.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. AU - Raju,G Praveen, AU - Li,Hsin-Chang, AU - Bali,Deeksha S, AU - Chen,Yuan-Tsong, AU - Urion,David K, AU - Lidov,Hart G W, AU - Kang,Peter B, Y1 - 2008/01/29/ PY - 2008/1/31/pubmed PY - 2008/4/2/medline PY - 2008/1/31/entrez SP - 349 EP - 52 JF - Journal of child neurology JO - J Child Neurol VL - 23 IS - 3 N2 - 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. SN - 0883-0738 UR - https://www.unboundmedicine.com/medline/citation/18230843/A_case_of_congenital_glycogen_storage_disease_type_IV_with_a_novel_GBE1_mutation_ L2 - https://journals.sagepub.com/doi/10.1177/0883073807309248?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -