Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

European Journal of Pediatrics

Volumn 168, Issue 9, 2009, Pages 1069-1074

  Melis, D ^a   Della Casa, R ^a   Parini, R ^b   Rigoldi, M ^b   Cacciapuoti, C ^a   Marcolongo, P ^c   Benedetti, A ^c   Gaudieri, V ^a   Andria, G ^a   Parenti, G ^a,d  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

G CSF; Glycogen storage disease type 1b; IBD; Neutropenia; Severity of infections; Vitamin E

Indexed keywords

ALPHA TOCOPHEROL; ANTIPORTER; GLUCOSE TRANSPORTER; SLC37A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BACTERIAL INFECTION; CHILD; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MALE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PROSPECTIVE STUDY; TREATMENT OUTCOME;

ADOLESCENT; ADULT; ANTIPORTERS; BACTERIAL INFECTIONS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; NEUTROPENIA; POINT MUTATION; PROSPECTIVE STUDIES; TREATMENT OUTCOME; VITAMIN E; YOUNG ADULT;

EID: 73849119471     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-008-0889-5     Document Type: Article

References (23)

1. Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC (2000) Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 95:320-327 (Pubitemid 30017259)
2. Aprikyan AA, Liles WC, Rodger E, Jonas M, Chi EY, Dale DC (2001) Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood 97:147- 153. doi:10.1182/blood.V97.1.147
3. Burton GW, Webb A, Ingold KU (1985) A mild, rapid, and efficient method of lipid extraction for use in determining vitamin E/lipid ratios. Lipids 20:29-39. doi:10.1007/BF02534359 (Pubitemid 15168820)
4. Chen YT (2001) Glycogen storage disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Kinzler V (eds) The metabolic and molecular bases of inherited disease 8th edn. McGraw-Hill, New York, pp 1521-1551
5. Chou JY, Matern D, Mansfield BC, Chen YT (2002) Type I glycogen storage disease: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2:121-143. doi:10.2174/1566524024605798 (Pubitemid 34649836)
6. Donadieu J, Barkaoui M, Bezard F, Bertrand Y, Pondarre C, Guibaud P (2000) Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony 233. Stimulating factor therapy. J Pediatr Hematol Oncol 22:188-189. doi:10.1097/00043426-200003000-00028 (Pubitemid 32290164)
7. Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V (1999) Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett 459:255-258. doi:10.1016/S0014-5793(99)01248- X (Pubitemid 29475042)
8. Geerling BJ, Badart-Smook A, van Deursen C, van Houwelingen AC, Russel MG, Stockbrügger RW, Brummer RJ (2000) Nutritional supplementation with N-3 fatty acids and antioxidants in patients with Crohn's disease in remission: effects on antioxidant status and fatty acid profile. Inflamm Bowel Dis 6:77-84
9. Hyams J, Markowitz J, Otley A, Rosh J, Mack D, Bousvaros A, Kugathasan S, Pfefferkorn M, Tolia V, Evans J, Treem W, Wyllie R, Rothbaum R, del Rosario J, Katz A, Mezoff A, Oliva-Hemker M, Lerer T, Griffiths A (2005) Pediatric inflammatory bowel disease collaborative research group. Evaluation of the pediatric Crohn disease activity index: a prospective multicenter experience. J Pediatr Gastroenterol Nutr 41:416-421. doi:10.1097/01. mpg.0000183350.46795.42
10. Ishiguro A, Nakahata T, Shimbo T (1993) Improvement of neutropenia and neutrophil dysfunction by granulocyte colony stimulating factor in patients with in glycogen storage disease type Ib. Eur J Pediatr 152:18-20
11. Kim SY, Nguyen AD, Gao JL, Murphy PM, Mansfield BC, Chou JY (2006) Bone marrow-derived cells require a functional glucose 6-phosphate transporter for normal myeloid functions. J Biol Chem 281:28794-28801. doi:10.1074/jbc. M604964200 (Pubitemid 44507022)
12. Kuijpers TW, Maianski NA, Tool AT, Smit GP, Rake JP, Roos D, Visser G (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood 101:5021-5024. doi:10.1182/blood-2002-10- 3128 (Pubitemid 36857768)
13. Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY (1995) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest 95:234-240. doi:10.1172/JCI117645
14. Leuzzi R, Banhegyi G, Kardon T, Marcolongo P, Capecchi PL, Burger HJ, Benedetti A, Fulceri R (2003) Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood 101:2381-2387. doi:10.1182/blood-2002-08-2576 (Pubitemid 36302085)
15. Melis D, Parenti G, Della Casa R, Sibilio M, Berni Canani R, Terrin G, Cucchiara S, Andria G (2003) Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr 92:1415-1421. doi:10.1080/08035250310007033 (Pubitemid 38114490)
16. Olcay L, Yetgin S, Erdemli E, Germeshausen M, Aktaş D, Büyükaşik Y, Okur H (2008) Congenital dysgranulopoietic neutropenia. Pediatr Blood Cancer 50:115-119. doi:10.1002/pbc.20877 (Pubitemid 350234276)
17. Pinsk M, Burzynski J, Yhap M, Fraser RB, Cummings B, Ste Marie M (2002) Acute myelogenous leukemia and glycogen storage disease 1b. J Pediatr Hematol Oncol 24:756-758. doi:10.1097/00043426-200212000-00015 (Pubitemid 35448743)
18. Rake JP, Visser G, Huismans D, Huitema S, van der Veer E, Piers DA, Smit GP (2003) Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis 26:371-384. doi:10.1023/A:1025111220095 (Pubitemid 37045445)
19. Santoro P, Cacciapuoti C, Palumbo A, Graziano D, Annunziata S, Capasso L, Formisano S, Ciccimarra F (1998) Effects of wortmannin on human neutrophil respiratory burst and phagocytosis. Ital J Biochem 47:13-18
20. Seidner DL, Lashner BA, Brzezinski A, Banks PL, Goldblum J, Fiocchi C, Katz J, Lichtenstein GR, Anton PA, Kam LY, Garleb KA, Demichele SJ (2005) An oral supplement enriched with fish oil, soluble fiber, and antioxidants for corticosteroid sparing in ulcerative colitis: a randomized, controlled trial. Clin Gastroenterol Hepatol 3:358-369. doi:10.1016/S1542-3565(04)00672-X (Pubitemid 40488344)
21. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP (2000) Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 137:187-191. doi:10.1067/mpd.2000. 105232 (Pubitemid 30659225)
22. Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, Wendel U, Smit GP (2002) European Study on Glycogen Storage Disease Type I. Consensus guidelines for management of glycogen storage disease type 1b-European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 161(Suppl 1):S120-3
23. Wittenstein B, Klein M, Finckh B, Ullrich K, Kohlschütter A (2002) Radical trapping in glycogen storage disease 1a. Eur J Pediatr 161(Suppl 1):S70-4