Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Disorders of Glycosylation / blood*
  • Female
  • Humans
  • Leukocytes / enzymology*
  • Lysosomes / enzymology*
  • Male
  • Phosphotransferases (Phosphomutases) / deficiency*


  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase