GLYCOGEN-STORAGE-DISEASE IN ADULTS

Objective: To identify complications amenable to prevention in adults with glycogen storage disease (GSD) types Ia, Ib, and III and to deter mine the effect of the disease on social tactors. Design: Case series and clinical review. Setting: Referral medical centers in the United S tates and Canada. Patients: All patients with GSD-Ia (37 patients), GS D-Ib (5 patients), and GSD-III (9 patients) who were 18 years of age o r older. Measurements: Ultrasound or radiographic studies identified l iver adenomas, nephrocalcinosis, or kidney stones. Radiographic studie s identified osteopenia. Reports of the clinical examination, serum ch emistry 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 microalbuminu ria (67%), kidney calcifications (65%), osteopenia or fractures or bot h (27%), increased alkaline phosphatase (61%) and gamma-glutamyltransf erase (93%) activities, and increased serum cholesterol (76%) and trig lyceride (100%) levels. Hyperuricemia was frequent (89%). Patients wit h GSD-Ib had severe recurrent bacterial infections and gingivitis. In patients with GSD-III, 67% (6 of 9) had increased creatinine kinase ac tivity. Four of these patients had myopathy and cardiomyopathy. Conclu sions: For GSD-Ia, hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. For GSD-Ib, g ranulocyte-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 currentl y in school or employed.