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

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Journal of Inherited Metabolic Disease

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.

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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

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Acknowledgements

The authors thank Dr Joel Andres for his critical review of the manuscript, and the nurses on the GCRC units for their care of this patient.

These investigations were supported in part by NIH General Clinical Research Center Grant M01 RR 00082 (Florida), NIH General Clinical Research Center Grant M01 RR 02172 (C.H.), and Mentored Career Award K23 RR 017560 (D.W.).

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Authors and Affiliations

  1. Division of Pediatric Gastroenterology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA

    M. K. Davis

  2. Division of Gastroenterology and Nutrition and Center for Inflammatory Bowel Disease, Children’s Hospital Boston, Boston, Massachusetts, USA

    P. A. Rufo

  3. Division of Gastroenterology, Hepatology & Nutrition, Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA

    S. F. Polyak

  4. Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA

    D. A. Weinstein

  5. Glycogen Storage Disease Program, University of Florida College of Medicine, Gainesville, FL, 32610, USA

    D. A. Weinstein

Authors
  1. M. K. Davis
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  2. P. A. Rufo
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  3. S. F. Polyak
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  4. D. A. Weinstein
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Corresponding author

Correspondence to D. A. Weinstein.

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Communicating editor: Verena Peters

Competing interests: None declared

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Davis, M.K., Rufo, P.A., Polyak, S.F. et al. Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib. J Inherit Metab Dis 31 (Suppl 3), 505–509 (2008). https://doi.org/10.1007/s10545-007-0774-9

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  • DOI: https://doi.org/10.1007/s10545-007-0774-9

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