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
  • P. A. Rufo
  • S. F. Polyak
  • D. A. Weinstein
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(Suppl 3): 505. doi:10.1007/s10545-007-0774-9

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

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