Unsuccessful intravenous D-mannose treatment in PMM2-CDG
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 i...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
22 October 2019
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| In: |
Orphanet journal of rare diseases
Year: 2019, Volume: 14 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-019-1213-3 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1186/s13023-019-1213-3
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| Author Notes: | Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal and Ute Spiekerkoetter |
| Summary: | 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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| Item Description: | Gesehen am 14.11.2019 |
| Physical Description: | Online Resource |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-019-1213-3 |