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. Conclusion: In this paper guidelines for the management of GSD I are presented.