Increased urinary excretion of keratan sulfate in fucosidosis.
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.
D000135:Acid Phosphatase / Q000378:metabolism; D002241:Carbohydrates / Q000032:analysis; D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine*; D006026:Glycoside Hydrolases / Q000378:metabolism; D006801:Humans; D007632:Keratan Sulfate / Q000652:urine*; D012867:Skin / Q000201:enzymology*; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D002241:Carbohydrates; D006025:Glycosaminoglycans; D007632:Keratan Sulfate; D000135:Acid Phosphatase; D002553:Cerebroside-Sulfatase; D006026:Glycoside Hydrolases; D005644:alpha-L-Fucosidase