title: beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.
abstract: The activity of beta-hexosaminidase, determined with 4-methylumbelliferyl-beta-N-acetylglucopyranoside substrate, and of beta-D-mannosidase was significantly higher in the serum of patients with carbohydrate-deficient glycoprotein (CDG) syndrome type IA (phosphomannomutase deficiency) than in controls. No significant differences were observed in the activity of beta-hexosaminidase, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrate, and the activity of alpha-D-mannosidase. Using DEAE-cellulose chromatography, a greater amount of hexosaminidase B than hexosaminidase A was detected in CDG serum. In CDG serum, hexosaminidase A was eluted in a more basic position in the salt gradient. An isoenzyme of alpha-D-mannosidase and beta-D-mannosidase was identified in control and CDG sera. alpha-D-Mannosidase isoenzyme was eluted in a slightly more basic position in CDG serum than in control serum, whereas beta-D-mannosidase isoenzyme was eluted in the same position.
authors.affiliation: Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, Via del Giochetto, 06126, Perugia, Italy. tbeccari@unipg.it
authors.forename: T
authors.initials: T
authors.lastname: Beccari
authors.forename: F
authors.initials: F
authors.lastname: Mancuso
authors.forename: E
authors.initials: E
authors.lastname: Costanzi
authors.forename: C
authors.initials: C
authors.lastname: Tassi
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: M C
authors.initials: MC
authors.lastname: Aisa
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
mesh_terms: D000293:Adolescent; D000328:Adult; D002848:Chromatography, DEAE-Cellulose; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology*; D005260:Female; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D008297:Male; D008361:Mannosidases / Q000097:blood*; D043323:alpha-Mannosidase; D044902:beta-Mannosidase; D001619:beta-N-Acetylhexosaminidases / Q000097:blood*
chemical_list: D007527:Isoenzymes; D008361:Mannosidases; D043323:alpha-Mannosidase; D044902:beta-Mannosidase; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases