Glycogen Storage Disease in Adults

  1. Gregg M. Talente;
  2. Rosalind A. Coleman;
  3. Craig Alter;
  4. Lester Baker;
  5. Barbara I. Brown;
  6. Robert A. Cannon;
  7. Yong-Tsong Chen;
  8. John F. Crigler;
  9. P. Ferreira;
  10. James C. Haworth;
  11. Gail E. Herman;
  12. Robert M. Issenman;
  13. James P. Keating;
  14. Randy Linde;
  15. Thomas F. Roe;
  16. Boris Senior; and
  17. Joseph I. Wolfsdorf
  1. 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.

    Abstract

    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.

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    1. Ann Intern Med February 1, 1994 vol. 120 no. 3 218-226
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