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Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Hum Pathol. 2012 Jun; 43(6):943-51.HP

Abstract

Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes. We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. GBE enzyme analysis revealed no detectable activity. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patient is not typical of glycogen storage disease type IV, it may be associated with severe enzymatic deficiency and a poor outcome.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

22305237

Citation

Magoulas, Pilar L., et al. "Diffuse Reticuloendothelial System Involvement in Type IV Glycogen Storage Disease With a Novel GBE1 Mutation: a Case Report and Review." Human Pathology, vol. 43, no. 6, 2012, pp. 943-51.
Magoulas PL, El-Hattab AW, Roy A, et al. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012;43(6):943-51.
Magoulas, P. L., El-Hattab, A. W., Roy, A., Bali, D. S., Finegold, M. J., & Craigen, W. J. (2012). Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Human Pathology, 43(6), 943-51. https://doi.org/10.1016/j.humpath.2011.10.001
Magoulas PL, et al. Diffuse Reticuloendothelial System Involvement in Type IV Glycogen Storage Disease With a Novel GBE1 Mutation: a Case Report and Review. Hum Pathol. 2012;43(6):943-51. PubMed PMID: 22305237.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. AU - Magoulas,Pilar L, AU - El-Hattab,Ayman W, AU - Roy,Angshumoy, AU - Bali,Deeksha S, AU - Finegold,Milton J, AU - Craigen,William J, Y1 - 2012/02/02/ PY - 2011/06/13/received PY - 2011/09/08/revised PY - 2011/10/07/accepted PY - 2012/2/7/entrez PY - 2012/2/7/pubmed PY - 2012/7/19/medline SP - 943 EP - 51 JF - Human pathology JO - Hum Pathol VL - 43 IS - 6 N2 - Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes. We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. GBE enzyme analysis revealed no detectable activity. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patient is not typical of glycogen storage disease type IV, it may be associated with severe enzymatic deficiency and a poor outcome. SN - 1532-8392 UR - https://www.unboundmedicine.com/medline/citation/22305237/Diffuse_reticuloendothelial_system_involvement_in_type_IV_glycogen_storage_disease_with_a_novel_GBE1_mutation:_a_case_report_and_review_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0046-8177(11)00408-4 DB - PRIME DP - Unbound Medicine ER -