Glycogen storage disease in adults.
Publication/Presentation Date
2-1-1994
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 gamma-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.
Volume
120
Issue
3
First Page
218
Last Page
226
ISSN
0003-4819
Published In/Presented At
Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y. T., Crigler, J. F., Jr, Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., & Wolfsdorf, J. I. (1994). Glycogen storage disease in adults. Annals of internal medicine, 120(3), 218–226. https://doi.org/10.7326/0003-4819-120-3-199402010-00008
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
8273986
Department(s)
Department of Pediatrics
Document Type
Article