Unsuccessful intravenous D-mannose treatment in PMM2-CDG

• Verfasst von: Grünert, Sarah [VerfasserIn]
• Verfasst von: Thiel, Christian [VerfasserIn]
• Titel: Unsuccessful intravenous D-mannose treatment in PMM2-CDG
• Verf.angabe: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal and Ute Spiekerkoetter
• E-Jahr: 2019
• Jahr: 22 October 2019
• Umfang: 6 S.
• Fussnoten: Gesehen am 14.11.2019
• Titel Quelle: Enthalten in: Orphanet journal of rare diseases
• Ort Quelle: London : BioMed Central, 2006
• Jahr Quelle: 2019
• Band/Heft Quelle: 14(2019) Artikel-Nummer 231, 6 Seiten
• ISSN Quelle: 1750-1172
• DOI: doi:10.1186/s13023-019-1213-3
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1681876868

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.