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Article

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Human pathology - 1 Jun 2012

Magoulas Pilar L, El-Hattab Ayman W, Roy Angshumoy, Bali Deeksha S, Finegold Milton J, Craigen William J

Abstract excerpt

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...

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Identifiers

PMID: 22305237
DOI: 10.1016/j.humpath.2011.10.001

Genes

GBE1

Variants

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