title: Correction of leukocyte adhesion deficiency type II with oral fucose.
abstract: We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydrate-based selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can be corrected by addition of L-fucose to the culture medium. This prompted us to initiate dietary fucose therapy on a patient with LAD II. Oral supplementation of fucose in this patient induced the expression of fucosylated selectin ligands on neutrophils and core fucosylation of serum glycoproteins. During 9 months of treatment, infections and fever disappeared, elevated neutrophil counts returned to normal, and psychomotor capabilities improved.
authors.affiliation: Klinik und Poliklinik für Kinderheilkunde and the Institut für Zellbiologie, ZMBE, Universität Münster, Münster, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: K
authors.initials: K
authors.lastname: Lühn
authors.forename: G
authors.initials: G
authors.lastname: Srikrishna
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
authors.forename: E
authors.initials: E
authors.lastname: Harms
authors.forename: D
authors.initials: D
authors.lastname: Vestweber
mesh_terms: D000284:Administration, Oral; D005643:Fucose / Q000008:administration & dosage* / Q000627:therapeutic use; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000188:drug therapy* / Q000378:metabolism; D008024:Ligands; D019087:Selectins / Q000378:metabolism
chemical_list: D008024:Ligands; D019087:Selectins; D005643:Fucose