Low urinary excretion of heparan sulfate in three patients with Lowe's syndrome.
Urinary glycosaminoglycans were isolated with the cetylpyridinium chloride (CPC) precipitation method and the excretion of individual species of urinary glycosaminoglycans in three patients with Lowe's syndrome was compared with that of age-matched control children by means of electrophoresis on cellulose acetate membranes and by quantification of hexosamine contents. Total daily excretion of urinary glycosaminoglycans in the patients seemed to be normal, but the relative excretion of urinary heparan sulfate was significantly reduced and ranged from 26 to 46% of the age-matched control mean, when calculated on the basis of relative glucosamine content in urinary glycosaminoglycans. Although electrophoretograms of urines from patients with Lowe's syndrome suggested some excess of low sulfated chondroitin sulfate corresponding in mobility to dermatan sulfate, the enzymatic subunit assay employing chondroitinases did not disclose any significant differences in the excretion pattern or in the degree of sulfation of chondroitin sulfate isomers between lowe's syndrome and control children.
D000293:Adolescent; D002675:Child, Preschool; D002810:Chondroitinases and Chondroitin Lyases; D006025:Glycosaminoglycans / Q000652:urine*; D006497:Heparan Sulfate / Q000652:urine*; D006595:Hexosamines / Q000032:analysis; D006801:Humans; D006821:Hyaluronoglucosaminidase; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000652:urine*; D015499:Renal Tubular Transport, Inborn Errors / Q000652:urine*; D013737:Testis / Q000201:enzymology
D002810:Chondroitinases and Chondroitin Lyases; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D006595:Hexosamines; D006821:Hyaluronoglucosaminidase