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Guidelines for management of glycogen storage disease type I—European study on glycogen storage disease type I (ESGSD I)

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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.

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Abbreviations

ACE :

angiotensin converting enzyme

CNGDF :

continuous nocturnal gastric drip feeding

ESGSD I :

European Study on Glycogen Storage Disease Type I

G6Pase :

glucose-6-phosphatase

GSD :

glycogen storage disease

IBD :

inflammatory bowel disease

PCCS :

precooked cornstarch

PCOs :

polycystic ovaries

UCCS :

uncooked cornstarch

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Author information

Authors and Affiliations

  1. Department of Paediatrics, Beatrix Children’s Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands

    Jan Peter Rake, Gepke Visser & G. Peter A. Smit

  2. Service Pédiatrie 1, Hôpital Antoine-Béclère, Clamart, France

    Philippe Labrune

  3. Institute of Child Health, Great Ormond Street Hospital, London, UK

    James V. Leonard

  4. Department of Paediatrics, University Hospital Hamburg, Germany

    Kurt Ullrich

Authors
  1. Jan Peter Rake
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  2. Gepke Visser
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  3. Philippe Labrune
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  4. James V. Leonard
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  5. Kurt Ullrich
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  6. G. Peter A. Smit
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Corresponding author

Correspondence to Jan Peter Rake.

Additional information

Published online: 24 August 2002

On behalf of the participating members of the ESGSD I. Members of the ESGSD I are: Austria (W Endres, D Skladal, Innsbruck), Belgium (E Sokal, Brussels), Czech Republic (J Zeman, Prague), France (P Labrune, Clamart), Germany (P Bührdel, Leipzig, K Ullrich, Hamburg, G Däublin, U Wendel, Düsseldorf), Great Britain (P Lee, JV Leonard, G Mieli-Vergani, London), Hungary (L Szönyi, Budapest), Italy (P Gandullia, R Gatti, M di Rocco, Genoa, D Melis, G Andria, Naples), Israel (S Moses, Beersheva), Poland (J Taybert, E Pronicka, Warsaw), The Netherlands (JP Rake, GPA Smit, G Visser, Groningen), Turkey (H Özen, N Kocak, Ankara)

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Rake, J.P., Visser, G., Labrune, P. et al. Guidelines for management of glycogen storage disease type I—European study on glycogen storage disease type I (ESGSD I). Eur J Pediatr 161, S112–S119 (2002). https://doi.org/10.1007/BF02680007

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