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Title: Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
Authors: Barone, R
Carchon, Hubert
Jansen, E
Pavone, L
Fiumara, A
Bosshard, N U
Gitzelmann, R
Jaeken, Jacques #
Issue Date: Apr-1998
Series Title: Journal of Inherited Metabolic Disease vol:21 issue:2 pages:167-72
Abstract: 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 beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and arylsulphatase A. In leukocytes, however, several enzymes had reduced activity, particularly alpha-fucosidase, beta-glucuronidase and alpha-mannosidase. These abnormalities could result from missorting, defective reuptake and/or reduced stability of the enzymes due to the defective glycosylation.
URI: 
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
# (joint) last author

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