Journal of Inherited Metabolic Disease

, Volume 31, Supplement 3, pp 505–509

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


  • M. K. Davis
    • Division of Pediatric Gastroenterology, Department of PediatricsUniversity of Florida College of Medicine
  • P. A. Rufo
    • Division of Gastroenterology and Nutrition and Center for Inflammatory Bowel DiseaseChildren’s Hospital Boston
  • S. F. Polyak
    • Division of Gastroenterology, Hepatology & Nutrition, Department of MedicineUniversity of Florida College of Medicine
    • Division of Pediatric Endocrinology, Department of PediatricsUniversity of Florida College of Medicine
    • Glycogen Storage Disease ProgramUniversity of Florida College of Medicine
Short Report

DOI: 10.1007/s10545-007-0774-9

Cite this article as:
Davis, M.K., Rufo, P.A., Polyak, S.F. et al. J Inherit Metab Dis (2008) 31: 505. doi:10.1007/s10545-007-0774-9


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.



5-aminosalicylic acid


granulocyte colony-stimulating factor


glycogen storage disease


granulocyte-macrophage colony-stimulating factor


inflammatory bowel disease


tumour necrosis factor-alpha

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© SSIEM 2007