title: Glycogen storage disease in adults.
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.
  
  
  METHODS
  Case series and clinical review.
  
  
  METHODS
  Referral medical centers in the United States and Canada.
  
  
  METHODS
  All patients with GSD-Ia (37 patients), GSD-Ib (5 patients), and GSD-III (9 patients) who were 18 years of age or older.
  
  
  METHODS
  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.
authors.affiliation: University of North Carolina at Chapel Hill.
authors.forename: G M
authors.initials: GM
authors.lastname: Talente
authors.forename: R A
authors.initials: RA
authors.lastname: Coleman
authors.forename: C
authors.initials: C
authors.lastname: Alter
authors.forename: L
authors.initials: L
authors.lastname: Baker
authors.forename: B I
authors.initials: BI
authors.lastname: Brown
authors.forename: R A
authors.initials: RA
authors.lastname: Cannon
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: J F
authors.initials: JF
authors.lastname: Crigler
authors.forename: P
authors.initials: P
authors.lastname: Ferreira
authors.forename: J C
authors.initials: JC
authors.lastname: Haworth
authors.forename: G E
authors.initials: GE
authors.lastname: Herman
authors.forename: R M
authors.initials: RM
authors.lastname: Issenman
authors.forename: J P
authors.initials: JP
authors.lastname: Keating
authors.forename: R
authors.initials: R
authors.lastname: Linde
authors.forename: T F
authors.initials: TF
authors.lastname: Roe
authors.forename: B
authors.initials: B
authors.lastname: Senior
authors.forename: J I
authors.initials: JI
authors.lastname: Wolfsdorf
mesh_terms: D000328:Adult; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000523:psychology; D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012917:Social Adjustment