martes, 22 de octubre de 2019

Unsuccessful intravenous D-mannose treatment in PMM2-CDG | Orphanet Journal of Rare Diseases | Full Text

Unsuccessful intravenous D-mannose treatment in PMM2-CDG | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases



Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Abstract

Background

PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life. While mannose treatment has been shown to correct glycosylation in vitro and in vivo in mice, no convincing effects have been observed in short-term treatment trials in single patients so far.

Results

We report on a boy with a severe PMM2-CDG who received a continuous intravenous mannose infusion over a period of 5 months during the first year of life in a dose of 0.8 g/kg/day. N-glycosylation of serum glycoproteins and mannose concentrations in serum were studied regularly. Unfortunately, no biochemical or clinical improvement was observed, and the therapy was terminated at age 9 months.

Conclusion

Postnatal intravenous D-mannose treatment seems to be ineffective in PMM2-CDG

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