title: Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
abstract: BACKGROUND
  Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implicated in the pathogenesis of neutropenia in GSD1b.
  
  
  METHODS
  We studied seven GSD1b patients over a 2-year-period to evaluate the efficacy of vitamin E, a known antioxidant, in preventing or improving the clinical manifestations associated with neutropenia and neutrophil dysfunction. Frequency and severity of infections, neutrophil counts and function, ileocolonoscopy and intestinal histology, were monitored. During the first year, patients did not assume vitamin E; during the second year of the study, vitamin E supplementation was added to their therapeutic regimens.
  
  
  RESULTS
  During vitamin E supplementation, the mean values of neutrophil counts were significantly higher (p < 0.05) and neutrophil counts lower than 500/mm(3) were found less frequently (p < 0.05); the frequency and severity of infections, mouth ulcers and perianal lesions, was reduced (p < 0.05); ileocolonoscopy and histology showed a mild improvement. Vitamin E supplementation did not result in changes in neutrophil function.
  
  
  CONCLUSIONS
  These results suggest that vitamin E supplementation might be beneficial in GSD1b patients and may alleviate disease manifestations associated with neutropenia.
authors.affiliation: Department of Pediatrics, Federico II University, Via Sergio Pansini, 5, Naples 80131, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Melis
authors.forename: R
authors.initials: R
authors.lastname: Della Casa
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: M
authors.initials: M
authors.lastname: Rigoldi
authors.forename: C
authors.initials: C
authors.lastname: Cacciapuoti
authors.forename: P
authors.initials: P
authors.lastname: Marcolongo
authors.forename: A
authors.initials: A
authors.lastname: Benedetti
authors.forename: V
authors.initials: V
authors.lastname: Gaudieri
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Parenti
mesh_terms: D000293:Adolescent; D000328:Adult; D017920:Antiporters / Q000235:genetics; D001424:Bacterial Infections / Q000453:epidemiology* / Q000517:prevention & control*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D009503:Neutropenia / Q000188:drug therapy*; D017354:Point Mutation / Q000235:genetics; D011446:Prospective Studies; D016896:Treatment Outcome; D014810:Vitamin E / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; D014810:Vitamin E