Short Report

Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 505-509

First online:

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

  • M. K. DavisAffiliated withDivision of Pediatric Gastroenterology, Department of Pediatrics, University of Florida College of Medicine
  • , P. A. RufoAffiliated withDivision of Gastroenterology and Nutrition and Center for Inflammatory Bowel Disease, Children’s Hospital Boston
  • , S. F. PolyakAffiliated withDivision of Gastroenterology, Hepatology & Nutrition, Department of Medicine, University of Florida College of Medicine
  • , D. A. WeinsteinAffiliated withDivision of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of MedicineGlycogen Storage Disease Program, University of Florida College of Medicine Email author 

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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.