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  1. D Melis1,
  2. R Della Casa1,
  3. R Parini2,
  4. M Rigoldi2,
  5. F Balivo1,
  6. C Cacciapuoti3,
  7. F Ferruzzi3,
  8. P Marcolongo4,
  9. V Gaudieri1,
  10. A Benedetti4,
  11. F D’Elia1,
  12. G Andria1,
  13. G Parenti1
  1. 1Department of Pediatrics, Federico II University of Naples, Naples, Italy
  2. 2Department of Pediatrics, Ospedale S. Gerardo Monza, Monza, Italy
  3. 3Department of Haematology, Federico II University of Naples, Naples, Italy
  4. 4Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Italy


Background Patients affected by Glycogen storage disease type 1b (GSD1b) show neutropenia and neutrophil dysfunction, which cause recurrent infections and are associated to an increased risk for inflammatory bowel disease (IBD). These manifestations are likely due to increased intracellular reactive oxygen species (ROS) of neutrophils and activation of apoptosis. The aim of the present study was to evaluate the efficacy of antioxidant therapy with vitamin E on clinical and biochemical parameters including neutrophil counts and function, frequency of infections and IBD in GSD1b patients.

Patients and methods Seven GSD1b patients, median age 12 years (range 5–29 years) were studied over a 2-year-period; during the first year no vitamin supplementation was prescribed, whereas during the second year vitamin E was given to patients (600 mg per day in pre-pubertal patients and 900 mg/day in adults). Frequency and severity of infections, ileocolonoscopy and intestinal histology, neutrophil counts and function were evaluated.

Results The median value of neutrophil counts was significantly higher during vitamin E supplementation than during the period without vitamin E (2292±300 vs 1463±418, p<0.05). Frequency and severity of infections, mouth ulcers and perianal lesions, were reduced on vitamin E supplementation (p<0.05). Ileocolonoscopy and histology showed a mild improvement during vitamin E supplementation. No changes in neutrophil function were detectable during vitamin E supplementation.

Conclusion These results suggest that vitamin E supplementation might be beneficial in GSD1b patients and may alleviate disease manifestations associated with neutropenia.

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