title: Lysosomal (leucocyte) proteinase and sulfatase levels in Dyggve-Melchior-Clausen (DMC) syndrome.
abstract: Patients with the DMC syndrome have been suggested to possess a specific sulfatase abnormality and/or to be deficient in a proteinase cleaving glycoprotein-acid mucopolysaccharide (AMP) linkage. We have previously found in DMC patients an abnormal excretion of urinary AMPs of which hyaluronic acid and chondroitin sulfate (A + C) were oversulfated and keratosulfate and heparan sulfate were undersulfated. Lysosomal acid proteinase, i.e. cathepsin D (EC 3.4.23.5) and neutral proteinase : elastase (EC 3.4.21.11) and cathepsin G were found to be normal in DMC patients. However, alpha 2-macroglobulin in serum was raised. This increase may be associated with a complex formation of alpha 2-macroglobulin with a neutral proteinase released from the cells. Increased levels of chondroitin sulfate N-acetylgalactosamine-6-sulfate sulfatase and sulfamidase and decreased enzymic levels of arylsulfatase A and B (EC 3.1.6.1) were found in leucocytes of DMC patients. The sulfatase activities assayed in the present study support our theory that a specific sulfatase abnormality may exist in the DMC syndrome.
mesh_terms: D000249:Adenosine Monophosphate / Q000652:urine; D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000097:blood; D001192:Arylsulfatases / Q000097:blood; D002403:Cathepsins / Q000097:blood*; D005260:Female; D006801:Humans; D006820:Hyaluronic Acid / Q000652:urine; D008607:Intellectual Disability / Q000201:enzymology*; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D010196:Pancreatic Elastase / Q000097:blood*; D013429:Sulfatases / Q000097:blood*; D013577:Syndrome; D000515:alpha 1-Antitrypsin / Q000032:analysis; D000511:alpha-Macroglobulins / Q000032:analysis
chemical_list: D000515:alpha 1-Antitrypsin; D000511:alpha-Macroglobulins; D000249:Adenosine Monophosphate; D006820:Hyaluronic Acid; D013429:Sulfatases; D001192:Arylsulfatases; D002403:Cathepsins; D010196:Pancreatic Elastase; D000581:Amidohydrolases