Increased excretion of urinary glycosaminoglycans in a case of Rothmund Thomson syndrome.
The exercretion of urinary total glycosaminoglycans (GAG) in a case of Rothmund Thomson syndrome associated with osteosarcoma was increased about 2--3 times that of normal control. Since the excretion of urinary total GAG in two cases of osteosarcoma was within normal range, the increased excretion of total GAG might be on account of the metabolic disorder of GAG in Rothmund Thomson syndrome. The prominent fractions obtained by Dowex 1 column chromatography from this syndrome were 0.75 M Fr and 1.0 M Fr, in which the major GAG were indicated to be partially degraded forms of heparan sulfate and chondroitin sulfate, respectively.
D000293:Adolescent; D000328:Adult; D003095:Collagen Diseases / Q000150:complications / Q000652:urine*; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D006820:Hyaluronic Acid / Q000652:urine; D008297:Male; D012516:Osteosarcoma / Q000150:complications; D013577:Syndrome
D006025:Glycosaminoglycans; D006820:Hyaluronic Acid