title: Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.
abstract: BACKGROUND
  It has been suggested, on a few GSD1b patients, that vitamin E improves neutrophil count and reduces frequency and severity of infections.The main objective of the present study was to investigate the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in the entire Italian caseload of GSD1b patients.
  
  
  METHODS
  Eighteen GSD1b patients, median age at the time of the study protocol 14.5 (range, 0.6-42 years), were enrolled from four Italian referral centres for metabolic diseases. For the evaluation of the efficacy of vitamin E, neutrophil count and function, frequency of infections needing hospitalization and inflammatory bowel activity were evaluated periodically all over one year before and during vitamin E therapy.
  
  
  RESULTS
  Frequency (1.5 ± 0.1 vs. 6.0 ± 0.6, p = 0.003) and severity of infections (2.2 ± 0.2 vs. 3.7 ± 0.4, p = 0.003) were lower and mean value of neutrophil count (1,583 ± 668 vs. 941 ± 809, p = 0.03) higher during vitamin E supplementation. Neutrophil function results improved during vitamin supplementation. PCDAI showed a significant reduction in the inflammatory activity during vitamin E supplementation (9 ± 1.4 vs. 13 ± 1.2, p = 0.006). In seven patients G-CSF requirement decreased and the dose was reduced after the end of the study.In conclusion, our study demonstrated the efficacy of vitamin E supplementation. Vitamin E has evident advantages as compared to G-CSF, as it can be assumed orally, and it has not been associated with severe side effects.
authors.affiliation: Dipartimento di Pediatria, Università "Federico II", Naples, Italy. daniela.melis@unina.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.affiliation: Dipartimento di Pediatria, Università "Federico II", Naples, Italy.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Minopoli
authors.affiliation: Dipartimento di Pediatria, Università "Federico II", Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Balivo
authors.affiliation: Dipartimento di Biologia, Università degli Studi di Siena, Siena, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Marcolongo
authors.affiliation: Ospedale S. Gerardo, Monza, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Parini
authors.affiliation: Ospedale S. Paolo, Milan, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Paci
authors.affiliation: Ospedale Pediatrico Bambino Gesù, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.affiliation: Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università degli Studi "Federico II", Naples, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.affiliation: Dipartimento di Biologia, Università degli Studi di Siena, Siena, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Benedetti
authors.affiliation: Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università degli Studi "Federico II", Naples, Italy.
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.affiliation: Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università degli Studi "Federico II", Naples, Italy.|Telethon Institute of Genetics and Medicine, Naples, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
keywords: Antioxidant; IBD; Infection severity score; Neutropenia; Neutrophil dysfunction; Vitamin E