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Glycogen Storage Disease in Adults

Gregg M. Talente, BS; Rosalind A. Coleman, MD; Craig Alter, MD; Lester Baker, MD; Barbara I. Brown, PhD; Robert A. Cannon, MD; Yong-Tsong Chen, MD, PhD; John F. Crigler, MD; P. Ferreira, MBBS; James C. Haworth, MD; Gail E. Herman, MD, PhD; Robert M. Issenman, MD; James P. Keating, MD; Randy Linde, MD; Thomas F. Roe, MD; Boris Senior, MD; and Joseph I. Wolfsdorf, MD, BCh
[+] Article and Author Information

From the University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Washington University School of Medicine, St. Louis, Missouri; the University of California, Davis, Sacramento, California; Duke University Medical Center, Durham, North Carolina; The Children's Hospital, Harvard Medical School, Boston, Massachusetts; University of Alberta, Edmonton, Alberta, Canada; University of Manitoba, Winnipeg, Manitoba, Canada; Institute for Molecular Genetics, Houston, Texas; McMaster University, Hamilton, Ontario, Canada; St. Louis Children's Hospital, St. Louis, Missouri; Palo Alto Medical Foundation, Palo Alto, California; Children's Hospital of Los Angeles, Los Angeles, California; Tufts-New England Medical Center Hospitals, Boston, Massachusetts. Requests for Reprints: Rosalind A. Coleman, MD, Department of Nutrition, University of North Carolina at Chapel Hill, School of Public Health, CB# 7400, Chapel Hill, NC 27599-7400. Grant Support: In part by NIH grants RR02172 and M01-RR30 National Center for Research Sources, General Clinical Research Centers program, and the Duke GSD fund.


Copyright ©2004 by the American College of Physicians


Ann Intern Med. 1994;120(3):218-226. doi:10.7326/0003-4819-120-3-199402010-00008
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Objective: To identify complications amenable to prevention in adults with glycogen storage disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors.

Design: Case series and clinical review.

Setting: Referral medical centers in the United States and Canada.

Patients: All patients with GSD-Ia (37 patients), GSD-Ib (5 patients), and GSD-III (9 patients) who were 18 years of age or older.

Measurements: Ultrasound or radiographic studies identified liver adenomas, nephrocalcinosis, or kidney stones. Radiographic studies identified osteopenia. Reports of the clinical examination, serum chemistry results, and social data were obtained.

Results: For patients with GSD-Ia, problems included short stature (90%), hepatomegaly (100%), hepatic adenomas (75%), anemia (81%), proteinuria or microalbuminuria (67%), kidney calcifications (65%), osteopenia or fractures or both (27%), increased alkaline phosphatase (61%) and γ-glutamyltransferase (93%) activities, and increased serum cholesterol (76%) and triglyceride (100%) levels. Hyperuricemia was frequent (89%). Patients with GSD-Ib had severe recurrent bacterial infections and gingivitis. In patients with GSD-III, 67% (6 of 9) had increased creatinine kinase activity. Four of these patients had myopathy and cardiomyopathy.

Conclusions: For GSD-Ia, hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. For GSD-Ib, granulocyte-colony-stimulating factor may prevent bacterial infections. For GSD-III, more data are required to determine whether the myopathy and cardiomyopathy can be prevented. Most of the patients with GSD-I and GSD-III had 12 or more years of education and were either currently in school or employed.

Figures

Grahic Jump Location
Figure 1.
Distribution of patients with glycogen storage disease by age and type.

Ia, Ib, and III refer to GSD types Ia, Ib, and III, respectively.

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Grahic Jump Location
Figure 2.
Heights of patients with glycogen storage disease.[12]

The area bounded by the dashed lines encompasses the 5th to the 50th percentiles for men and women .

Grahic Jump Location

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