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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)

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Abstract

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to develop guidelines about (long-term) management and follow-up, and to develop therapeutic strategies, the collaborative European Study on GSD I (ESGSD I) was initiated. This paper is an descriptive analysis of data obtained from the retrospective part of the ESGSD I. Included were 231 GSD Ia and 57 GSD Ib patients. Median age of data collection was 10.4 years (range 0.4–45.4 years) for Ia and 7.1 years (0.4–30.6 years) for Ib patients. Data on dietary treatment, pharmacological treatment, and outcome including mental development, hyperlipidaemia and its complications, hyperuricaemia and its complications, bleeding tendency, anaemia, osteopenia, hepatomegaly, liver adenomas and carcinomas, progressive renal disease, height and adult height, pubertal development and bone maturation, school type, employment, and pregnancies are presented. Data on neutropenia, neutrophil dysfunction, infections, inflammatory bowel disease, and the use of granulocyte colony-stimulating factor are presented elsewhere (Visser et al. 2000, J. Pediatr 137:187–191; Visser et al. 2002, Eur J Pediatr DOI 10.1007/s00431-002-1010-0).Conclusion: there is still wide variation in methods of dietary and pharmacological treatment of glycogen storage disease type I. Intensive dietary treatment will improve, but not correct completely, clinical and biochemical status and fewer patients will die as a direct consequence of acute metabolic derangement. With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality.

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Abbreviations

BMI :

body mass index

CNGDF :

continuous nocturnal gastric drip feeding

ESGSD I :

European Study on Glycogen Storage Disease Type I

FM :

frequent meals

GSD :

glycogen storage disease

G6P :

glucose-6-phosphate

G6Pase :

glucose-6-phosphatase

IBD :

inflammatory bowel disease

LT :

liver transplantation

MD :

metabolic derangement

PCOs :

polycystic ovaries

SDS :

standard deviation score

UCCS :

uncooked corn starch

XO :

xanthine oxidase

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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. Hospital 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

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  1. Jan Peter Rake
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  2. Gepke Visser
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  3. Philippe Labrune
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  6. G. Peter A. Smit
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Correspondence to Jan Peter Rake.

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Published online: 22 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 Smith, G Visser, Groningen), Turkey (H Özen, N Kocak, Ankara)

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Rake, J.P., Visser, G., Labrune, P. et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I). Eur J Pediatr 161, S20–S34 (2002). https://doi.org/10.1007/BF02679990

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