The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

@article{Lonlay2009TheCS,
  title={The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.},
  author={Pascale de Lonlay and Nathalie Seta},
  journal={Biochimica et biophysica acta},
  year={2009},
  volume={1792 9},
  pages={841-3}
}
Phosphomannose isomerase (PMI) deficiency or congenital disorders of glycosylation type Ib (CDG Ib) is the only CDG that can be treated. Despite variable severity leading to dramatically different prognoses, clinical presentation is relatively homogeneous with liver and digestive features associated with hyperinsulinism and inconstant thrombosis. A feature of CDG is that coagulation factors are decreased. In our experience, mannose given orally at least 4 times per day not only transformed… CONTINUE READING