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Daniel R. Ambruso, MD; Edward R. B. McCabe, MD, PhD; Donald Anderson, MD; Arthur Beaudet, MD; Lawrence M. Ballas, PhD; Ira K. Brandt, MD; Barbara Brown, PhD; Rosalin Coleman, MD; D. B. Dunger, MD, MRCP; John M. Falletta, MD; Henry S. Friedman, MD; Morey W. Haymond, MD; James P. Keating, MD; Thomas R. Kinney, MD; J. V. Leonard, PhD, FRCP; Donald H. Mahoney, Jr, MD; Reuben Matalon, MD, PhD; Thomas F. Roe, MD; Patricia Simmons, MD; Alfred E. Slonim, MD

Am J Dis Child. 1985;139(7):691-697.

Abstract
• Clinical, hematologic, and immunologic findings were reviewed in 21 patients with glycogenosis lb. 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 myelold 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 la and lb 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 lb disease and may be related to abnormal glucose-6-phosphate transport.

(AJDC 1985;139:691-697)

Author Affiliations
From the Department of Pediatrics, University of Colorado School of Medicine and the Belle Bonfils Memorial Blood Center, Denver (Drs Ambruso and McCabe); the Department of Pediatrics, Baylor College of Medicine, Houston (Drs Anderson, Beaudet, and Mahoney); the Department of Pediatrics, Indiana University School of Medicine, Indianapolis (Dr Brandt); the Department of Biochemistry, St Louis University School of Medicine (Dr Brown); the Departments of Pediatrics and Biochemistry, Duke University Medical Center, Durham, NC (Drs Coleman, Kinney, Friedman, Falletta, and Ballas); the Department of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minn (Drs Haymond and Simmons); the St Louis Children's Hospital and Washington University School of Medicine, St Louis (Dr Keating); the University of London Institute of Child Health (Drs Leonard and Dunger); the Department of Pediatrics, Abraham Lincoln School of Medicine, Chicago (Dr Matalon); the Children's Hospital of Los Angeles and the University of Southern California Medical School, Los Angeles (Dr Roe); and the Department of Pediatric Endocrinology, Vanderbilt University School of Medicine, Nashville, Tenn (Dr Slonim).

Footnotes
Read in part before the American Pediatric Society/Society for Pediatric Research National Meeting, Washington, DC, May 12, 1982.

Reprint requests to Department of Pediatrics, University of Colorado Health Sciences Center, C-220, Denver, CO 80262 (Dr Ambruso).

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