Correction of leukocyte adhesion deficiency type II with oral fucose

Blood. 1999 Dec 15;94(12):3976-85.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Administration, Oral
  • Fucose / administration & dosage*
  • Fucose / therapeutic use
  • Humans
  • Leukocyte-Adhesion Deficiency Syndrome / drug therapy*
  • Leukocyte-Adhesion Deficiency Syndrome / metabolism
  • Ligands
  • Selectins / metabolism

Substances

  • Ligands
  • Selectins
  • Fucose