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Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate‐deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
Author(s) -
Barone R.,
Carchon H.,
Jansen E.,
Pavone L.,
Fiumara A.,
Bosshard N. U.,
Gitzelmann R.,
Jaeken J.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005351927573
Subject(s) - enzyme , glycoprotein , mannosidase , glycosylation , glucuronidase , biology , hexosaminidase , carbohydrate , hurler syndrome , biochemistry , glycoside hydrolase , endocrinology , medicine , disease
From 10 patients with carbohydrate‐deficient glycoprotein (CDG) syndrome due to phosphomannomutase (PMM) deficiency, out of 10 lysosomal enzymes, 7 enzyme activities were measured in serum and 9 in leukocytes. In serum there was a 2‐fold to 4‐fold increase in activity of β‐glucuronidase, β‐hexosaminidase, β‐galactosidase, and arylsulphatase A. In leukocytes, however, several enzymes had reduced activity, particularly α‐fucosidase, β‐glucuronidase and α‐mannosidase. These abnormalities could result from missorting, defective reuptake and/or reduced stability of the enzymes due to the defective glycosylation.