Increased urinary excretion of keratan sulfate in fucosidosis

J Clin Chem Clin Biochem. 1978 Jun;16(6):329-34. doi: 10.1515/cclm.1978.16.6.329.

Abstract

In two children exhibiting the clinical symptoms of fucosidosis, the diagnosis was biochemically ascertained by the demonstration of a profound altpha-L-fucosidase deficiency in cultured skin fibroblasts. The non-dialysed urines of these fucosidosis patients were separated into two fractions by chromatography on Biogel P-2. The first fraction containing the glycosaminoglycans was further fractionated on Dowex 1 X 2 by stepwise elution with increasing NaCl concentrations. Keratan sulfate-chondroitin sulfates attached to the same peptide core were assayed and characterised mainly in the fractions eluted with 1.25, 1.5, 2.0 and 3.0 mol/1 NaCl. Whereas the excretion of normal children of the same age was found to be 0.77 mumol glucosamine equivalents per day in the 2 mol/1 and 3 mol/1 NaCl fraction, the two patients excreted 6.7 (M. C.) and 3.5 (M. S.) mumol glucosamine equivalents per day, respectively. Since keratan sulfate contains alpha-fucose at the non-reducing terminal, this increase in excretion of long chain keratan sulfate in fucosidosis could result from impaired degradation of keratan sulfate, due to the alpha-fucosidase deficiency.

MeSH terms

  • Acid Phosphatase / metabolism
  • Carbohydrates / analysis
  • Cells, Cultured
  • Cerebroside-Sulfatase / metabolism
  • Child
  • Fibroblasts / enzymology
  • Glycosaminoglycans / urine*
  • Glycoside Hydrolases / metabolism
  • Humans
  • Keratan Sulfate / urine*
  • Skin / enzymology*
  • alpha-L-Fucosidase / deficiency*

Substances

  • Carbohydrates
  • Glycosaminoglycans
  • Keratan Sulfate
  • Acid Phosphatase
  • Cerebroside-Sulfatase
  • Glycoside Hydrolases
  • alpha-L-Fucosidase