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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Research

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Authors: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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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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Metadata
Title
Unsuccessful intravenous D-mannose treatment in PMM2-CDG
Authors
Sarah C. Grünert
Thorsten Marquardt
Ekkehart Lausch
Hans Fuchs
Christian Thiel
Martin Sutter
Anke Schumann
Luciana Hannibal
Ute Spiekerkoetter
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-019-1213-3

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