Journal of Inherited Metabolic Disease

, Volume 31, Supplement 3, pp 505–509 | Cite as

Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib

  • M. K. Davis
  • P. A. Rufo
  • S. F. Polyak
  • D. A. Weinstein
Short Report

Summary

Glycogen storage disease (GSD) type Ib is a congenital disorder of glycogen metabolism that is associated with neutropenia, neutrophil dysfunction, and an inflammatory bowel disease that mimics a Crohn phenotype. Gastrointestinal inflammation in GSD Ib has been successfully treated with 5-aminosalicylic acid and granulocyte colony-stimulating factor (G-CSF). However, therapeutic options for patients not responding to traditional therapies have been limited owing to untoward effects of glucocorticoids and immunomodulators in this metabolic disorder. Adalimumab is a monoclonal antibody targeting tumour necrosis factor-α that has shown promise for the treatment of patients with Crohn disease. Due to the limited options for treating GSD-associated inflammatory bowel disease, use of adalimumab was attempted in a case unresponsive to aminosalicylate, G-CSF, and antibiotic therapy. Significant clinical and histological improvement was observed in our patient, and the medication was well tolerated.

Abbreviations

5-ASA

5-aminosalicylic acid

G-CSF

granulocyte colony-stimulating factor

GSD

glycogen storage disease

GM-CSF

granulocyte-macrophage colony-stimulating factor

IBD

inflammatory bowel disease

TNF-α

tumour necrosis factor-alpha

References

  1. Chen YT, Bazzarre CH, Lee MM, et al (1993) Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152(Supplement 1): S56–59.Google Scholar
  2. Chen Y-T, Burchell A (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1521–1551.Google Scholar
  3. De Jong DJ, Tielen J, Habraken CM, et al (2005) 5-Aminosalicylates and effects on renal function in patients with Crohn’s disease. Inflamm Bowel Dis 11(11): 972–976.Google Scholar
  4. Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L (2002) Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur J Pediatr 161(Supplement 1): S88–92.Google Scholar
  5. Gitzelmann R, Bosshard NU (1993) Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur J Pediatr 152(Supplement 1): S33–38.Google Scholar
  6. Glas J, Torok HP, Daczo J, et al (2005) The leukocyte count predicts the efficacy of treatment with azathioprine in inflammatory bowel disease. Eur J Med Res 10(12): 535–538.Google Scholar
  7. Hanauer SB, Feagan BG, Lichtenstein GR, et al (2002) ACCENT I Study Group. Maintenance infliximab for Crohn’s disease: the ACCENT I randomised trial. Lancet 359(9317): 1541–1549.Google Scholar
  8. Hanauer SB, Sandborn WJ, Rutgeerts P, et al (2006) Human anti-tumor necrosis factor monoclonal antibody (adalimumab) in Crohn’s disease: the CLASSIC-I trial. Gastroenterology 130(2): 323–333.Google Scholar
  9. Korzenik JR, Dieckgraefe BK (2005) An open-labelled study of granulocyte colony-stimulating factor in the treatment of active Crohn’s disease. Aliment Pharmacol Ther 21(4): 391–400.Google Scholar
  10. Lawson MM, Thomas AG, Akobeng AK (2006) Tumour necrosis factor alpha blocking agents for induction of remission in ulcerative colitis. Cochrane Database Syst Rev 3: CD005112.Google Scholar
  11. Lei KJ, Shelly LL, Lin B, et al (1995) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types Ia and IaSP but not 1b and 1c. J Clin Invest 95(1): 234–240.Google Scholar
  12. Lei KJ, Shelly LL, Pan CJ, et al (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia. Science 262(5133): 580–583.Google Scholar
  13. Roe TF, Thomas DW, Gilsanz V, et al (1986) Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr 109(1): 55–59.Google Scholar
  14. Rutgeerts P, Sandborn WJ, Feagan BG, et al (2005) Infliximab for induction and maintenance therapy for ulcerative colitis. N Engl J Med 353(23): 2462–2476. [Erratum in N Engl J Med 2006; 354(20): 2200.]Google Scholar
  15. Visser G, Rake JP, Fernandes J, et al (2000) Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 137(2): 187–191.Google Scholar
  16. Visser G, Rake JP, Labrune P, et al (2002) Consensus guidelines for management of glycogen storage disease type 1b—European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 161(Supplement 1): S120–123.Google Scholar
  17. Wolfsdorf JI, Crigler JF Jr (1997) Cornstarch regimens for nocturnal treatment of young adults with type I glycogen storage disease. Am J Clin Nutr 65(5): 1507–1511.Google Scholar
  18. Wolfsdorf JI, Crigler JF Jr (1999) Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease. J Pediatr Gastroenterol Nutr 29(2): 136–143.Google Scholar

Copyright information

© SSIEM 2007

Authors and Affiliations

  • M. K. Davis
    • 1
  • P. A. Rufo
    • 2
  • S. F. Polyak
    • 3
  • D. A. Weinstein
    • 4
    • 5
  1. 1.Division of Pediatric Gastroenterology, Department of PediatricsUniversity of Florida College of MedicineGainesvilleUSA
  2. 2.Division of Gastroenterology and Nutrition and Center for Inflammatory Bowel DiseaseChildren’s Hospital BostonBostonUSA
  3. 3.Division of Gastroenterology, Hepatology & Nutrition, Department of MedicineUniversity of Florida College of MedicineGainesvilleUSA
  4. 4.Division of Pediatric Endocrinology, Department of PediatricsUniversity of Florida College of MedicineGainesvilleUSA
  5. 5.Glycogen Storage Disease ProgramUniversity of Florida College of MedicineGainesvilleUSA

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