title: Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
abstract: Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on the data of the European Study on Glycogen Storage Disease Type I, discussions within this study group, discussions with the participants of the international SHS-symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome' (Fulda, Germany; 22-25th November 2000) and on data from the literature, guidelines are presented concerning: (1). diagnosis, prenatal diagnosis and carrier detection; (2). (biomedical) targets; (3). recommendations for dietary treatment; (4). recommendations for pharmacological treatment; (5). metabolic derangement/intercurrent infections/emergency treatment/preparation elective surgery; and (6). management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up.
  
  
  CONCLUSIONS
  In this paper guidelines for the management of GSD I are presented.
authors.affiliation: Department of Paediatrics, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands. rakejp@cs.com
authors.forename: Jan Peter
authors.initials: JP
authors.lastname: Rake
authors.forename: Gepke
authors.initials: G
authors.lastname: Visser
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
authors.forename: James V
authors.initials: JV
authors.lastname: Leonard
authors.forename: Kurt
authors.initials: K
authors.lastname: Ullrich
authors.forename: G Peter A
authors.initials: GP
authors.lastname: Smit
mesh_terms: D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000178:diet therapy / Q000188:drug therapy / Q000503:physiopathology / Q000628:therapy*; D006801:Humans