Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate.
It had been suggested that Dyggve-Melchior-Clausen syndrome may be due to the deficiency of a specific sulfatase and/or a protease involved in proteoglycan degradation. The ability of Dyggve-Melchior-Clausen fibroblasts to endocytose and degrade 3H-leucine- and 35S-sulfate-labelled proteodermatan sulfate and 35S-sulfate-labelled proteokeratan sulfate, respectively, was therefore investigated. The turnover of cell-associated 35S-sulfate-labelled heparan sulfate was also followed. In all these experiments Dyggve-Melchior-Clausen fibroblasts behaved normally.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002478:Cells, Cultured; D002648:Child; D002807:Chondroitin / Q000031:analogs & derivatives*; D002808:Chondroitin Lyases / Q000378:metabolism; D011508:Chondroitin Sulfate Proteoglycans / Q000378:metabolism*; D003871:Dermatan Sulfate / Q000031:analogs & derivatives* / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D004705:Endocytosis; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism*; D006497:Heparan Sulfate / Q000378:metabolism*; D006801:Humans; D007632:Keratan Sulfate / Q000378:metabolism*; D007930:Leucine / Q000378:metabolism; D000071234:Lumican; D008297:Male; D008970:Molecular Weight; D011509:Proteoglycans / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D002807:Chondroitin; D002808:Chondroitin Lyases; D011508:Chondroitin Sulfate Proteoglycans; D003871:Dermatan Sulfate; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D007632:Keratan Sulfate; D007930:Leucine; D000071234:Lumican; D011509:Proteoglycans; C000604306:LUM protein, human; C028774:proteodermatan sulfate