Dyggve-Melchior-Clausen syndrome: Normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate

Abstract

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.