Infectious and bleeding complications in patients with glycogenosis Ib.

Journal Article (Journal Article)

Clinical, hematologic, and immunologic findings were reviewed in 21 patients with glycogenosis Ib. Fifteen of the patients suffered from moderate to severe bacterial infections. Ten patients had excessive epistaxis or bleeding from surgical sites, and eight suffered oral and anal mucosal ulceration. Sixteen of 21 patients exhibited chronic neutropenia associated with abnormalities in myeloid maturation and decreases in the bone marrow storage and peripheral marginating pools. Diminished neutrophil motility was documented in 14 of 15 patients tested, and adherence was decreased in three patients studied. Neutrophil microbicidal activity, reduction of nitroblue tetrazolium, and ingestion were normal in all patients tested. Bleeding times were prolonged in five of eight patients, and results of platelet function studies were abnormal in five individuals. Excessive bleeding in patients with glycogenoses Ia and Ib are similar and may be secondary to the functional deficiency of glucose-6-phosphatase. However, neutropenia, neutrophil dysfunction, and the resulting infectious complications are specific for Ib disease and may be related to abnormal glucose-6-phosphate transport.

Full Text

Duke Authors

Cited Authors

  • Ambruso, DR; McCabe, ER; Anderson, D; Beaudet, A; Ballas, LM; Brandt, IK; Brown, B; Coleman, R; Dunger, DB; Falletta, JM

Published Date

  • July 1985

Published In

Volume / Issue

  • 139 / 7

Start / End Page

  • 691 - 697

PubMed ID

  • 3860000

International Standard Serial Number (ISSN)

  • 0002-922X

Digital Object Identifier (DOI)

  • 10.1001/archpedi.1985.02140090053027


  • eng

Conference Location

  • United States