LYSOSOMAL (LEUCOCYTE) PROTEINASE AND SULFATASE LEVELS IN DYGGVE-MELCHIOR-CLAUSEN (DMC) SYNDROME
| Autor: | S.C. Rastogi, Jørgen Clausen, J. C. Melchior, G. E. Jensen, Dyggve Hv |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Arylsulfatase A Adolescent Cathepsin D Cathepsin G Amidohydrolases chemistry.chemical_compound Intellectual Disability Leukocytes Humans alpha-Macroglobulins Chondroitin sulfate Hyaluronic Acid Arylsulfatases Cathepsin Pancreatic Elastase Sulfatase Elastase Syndrome General Medicine Heparan sulfate Middle Aged Mucopolysaccharidoses Cathepsins Adenosine Monophosphate Neurology chemistry Biochemistry alpha 1-Antitrypsin Female Neurology (clinical) Sulfatases Lysosomes |
| Zdroj: | Acta Neurologica Scandinavica. 56:389-396 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.1977.tb01446.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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