Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate‐deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
1998; Springer Science+Business Media; Volume: 21; Issue: 2 Linguagem: Inglês
10.1023/a
ISSN1573-2665
AutoresRita Barone, Hubert Carchon, E. Jansen, Lorenzo Pavone, Agata Fiumara, N. U. Bosshard, R Gitzelmann, J. Jaeken,
Tópico(s)Cellular transport and secretion
ResumoAbstract 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 β‐glucuronidase, β‐hexosaminidase, β‐galactosidase, and arylsulphatase A. In leukocytes, however, several enzymes had reduced activity, particularly α‐fucosidase, β‐glucuronidase and α‐mannosidase. These abnormalities could result from missorting, defective reuptake and/or reduced stability of the enzymes due to the defective glycosylation.
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