title: Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).
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.
authors.affiliation: Division of Pediatric Neurology, University of Catania, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: H
authors.initials: H
authors.lastname: Carchon
authors.forename: E
authors.initials: E
authors.lastname: Jansen
authors.forename: L
authors.initials: L
authors.lastname: Pavone
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: N U
authors.initials: NU
authors.lastname: Bosshard
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000097:blood*; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase