High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

@article{Grnewald2001HighRA,
  title={High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).},
  author={Stephanie Gr{\"u}newald and Els Schollen and Emile van Schaftingen and Jaak Jaeken and Gert Matthijs},
  journal={American journal of human genetics},
  year={2001},
  volume={68 2},
  pages={347-54}
}
Congenital disorders of glycosylation (CDGs) are a rapidly enlarging group of inherited diseases with abnormal N-glycosylation of glycoconjugates. Most patients have CDG-Ia, which is due to a phosphomannomutase (PMM) deficiency. In this article, we report that a significant portion (9 of 54) of patients with CDG-Ia had a rather high residual PMM activity in fibroblasts included in the normal range (means of the controls +/- 2 SD) and amounting to 35%-70% of the mean control value. The clinical… CONTINUE READING
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