β-Hexosaminidase, α-D-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

T. Beccari, F. Mancuso, E. Costanzi, C. Tassi, R. Barone, A. Fiumara, An Orlacchio, M. C. Aisa, A. Orlacchio

Research output: Contribution to journalArticle

Abstract

The activity of β-hexosaminidase, determined with 4-methylumbelliferyl-β-N-acetylglucopyranoside substrate, and of β-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 β-hexosaminidase, determined using 4-methylumbelliferyl-β-N-acetylglucopyranoside-6-sulphate as substrate, and the activity of α-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 α-D-mannosidase and β-D-mannosidase was identified in control and CDG sera. α-D-Mannosidase isoenzyme was eluted in a slightly more basic position in CDG serum than in control serum, whereas β-D-mannosidase isoenzyme was eluted in the same position. (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)125-132
Number of pages8
JournalClinica Chimica Acta
Volume302
Issue number1-2
DOIs
Publication statusPublished - 2000

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Keywords

  • α-D-mannosidase
  • β-D-mannosidase
  • CDG syndrome
  • Hexosaminidase

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

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