Correction of leukocyte adhesion deficiency type II with oral fucose.
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.
Marquardt
T
T
Klinik und Poliklinik für Kinderheilkunde and the Institut für Zellbiologie, ZMBE, Universität Münster, Münster, Germany.
Lühn
K
K
Srikrishna
G
G
Freeze
H H
HH
Harms
E
E
Vestweber
D
D
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
D008024:Ligands; D019087:Selectins; D005643:Fucose