Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities

Journal of Leukocyte Biology

Volumn 66, Issue 1, 1999, Pages 95-98

  Korner C ^a   Linnebank, M ^b   Koch, H G ^b   Harms, E ^b   Von Figura, K ^a   Marquardt, T ^b,c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Klinik Fur Neurologie   (Germany)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Bombay; Fucose; GDP D mannose 4,6 dehydratase; Infection; Sialyl Lewis X

Indexed keywords

COMPLEMENTARY DNA; GUANOSINE DIPHOSPHATE FUCOSE; GUANOSINE DIPHOSPHATE MANNOSE;

ARTICLE; CARBOHYDRATE METABOLISM; CARBOHYDRATE SYNTHESIS; CASE REPORT; CHILD; CLINICAL FEATURE; DNA SEQUENCE; ENZYME ANALYSIS; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LEUKOCYTE ADHESION DEFICIENCY; MALE; METABOLIC DISORDER; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0033023153     PISSN: 07415400     EISSN: None     Source Type: Journal    
DOI: 10.1002/jlb.66.1.95     Document Type: Article

References (13)

1. Etzioni, A., Frydman, M., Pollack, S., Avidor, I., Phillips, M. L., Paulson, J. C., Gershoni-Baruch, R. (1992) Recurrent severe infections caused by a novel leukocyte adhesion deficiency. N. Engl. J. Med. 327, 1789-1792.
2. Frydman, M., Etzioni, A., Eidlitz-Markus, T., Avidor, I., Varsano, I., Shechter, Y., Orlin, J. B., Gershoni-Baruch, R. (1992) Ramban-Hasharon syndrom of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am. J. Med. Gen. 44, 297-302.
3. Price, T. H., Ochs, H. D., Gershoni-Baruch, R., Harlan, J. M., Etzioni, A. (1994) In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. Blood 84, 1635-1639.
4. Yurchenco, P. D., Atkinson, P. H. (1977) Equilibration of fucosyl glycoprotein pools in HeLa cells. Biochemistry 16, 944-953.
5. Sullivan, F. X., Kumar, R., Kriz, R., Stahl, M., Xu, G.-Y., Rouse, J., Chang, X.-J., Boodhoo, A., Potvin, B., Cumming, D. A. (1998) Molecular cloning of human GDP-mannose 4,6-Dehydratase and reconstitution of GDP-fucose biosynthesis in vitro. J. Biol. Chem. 273, 8193-8202.
6. Ohyama, C., Smith, P. L., Angata, K., Fukuda, M. N., Lowe, J. B., Fukuda, M. (1998) Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase, a key enzyme for fucose metabolism defective in Lec13 cells. J. Biol. Chem. 273, 14582-14587.
7. Tonetti, M., Sturla, L., Bisso, L., Benatti, U., De Flora, A. (1996) Synthesis of GDP-L-fucose by the human FX protein. J. Biol. Chem. 271, 27274-27279.
8. Marquardt, T., Brune, T., Lühn, K., Zimmer, K. P., Körner, C., Fabritz, L., van der Werft, N., Vormoor, J., Freeze, H. H., Louwen, F., Bierman, B., Harms, E., von Figura, K., Vestweber, D., Koch, H. G. (1999) A new patient with leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J. Pediatrics, in press.
9. Sturla, L., Etzioni, A., Zanardi, D., De Flora, G., Silengo, L., De Flora, A., Tonetti, M. (1998) Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. FEBS Lett. 429, 274-278.
10. Reitman, M. L., Trowbridge, I. A., Kornfeld, S. (1980) Mouse lymphoma cell lines resistant to pea lectin are defective in fucose metabolism. J. Biol. Chem. 255, 9900-9906.
11. Ripka, J., Adamany, A., Stanley, P. (1986) Two Chinese hamster ovary glycosylation mutants affected in the conversion of GDP-mannose to GDP-fucose. Arch. Biochem. Biophys. 249, 533-545.
12. Körner, C., Lehle, L., von Figura, K. (1998) Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type 1 fibroblasts with phosphomannomutase deficiency. Glycobiol. 8, 165-171.
13. Martin, A., Ruggiero-Lopez, D., Broquet, P., Richard, M., Loisot, P. (1989) High-performance liquid chromatographic study of GDP-mannose and GDP-fucose metabolism. J. Chromatogr. 497, 319-325.