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Unsuccessful intravenous D-mannose treatment in PMM2-CDG
Sarah C Grünert1, Thorsten Marquardt2, Ekkehart Lausch3
1Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. Sarah.gruenert@uniklinik-freiburg.de.
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.
Insights
Intravenous mannose treatment for Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia (PMM2-CDG) showed no clinical improvement in a severe case. This suggests postnatal D-mannose infusions may be ineffective for PMM2-CDG.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia (PMM2-CDG) is the most prevalent glycosylation disorder, frequently causing severe, life-threatening multisystemic complications in early childhood.
- While in vitro and murine studies suggest mannose supplementation can correct glycosylation defects, clinical efficacy in human PMM2-CDG patients remains unproven.
Observation:
- A case study involved a male infant diagnosed with severe PMM2-CDG who underwent continuous intravenous D-mannose therapy (0.8 g/kg/day) for five months within his first year of life.
- Regular monitoring of serum glycoprotein N-glycosylation and mannose levels was performed throughout the treatment period.
Findings:
- Despite the intensive intravenous mannose infusion, no biochemical improvements in N-glycosylation or clinical amelioration of PMM2-CDG symptoms were observed.
- The treatment was discontinued when the patient reached nine months of age due to lack of therapeutic effect.
Implications:
- This case report indicates that postnatal intravenous D-mannose administration may not be an effective therapeutic strategy for managing PMM2-CDG.
- Further research is needed to explore alternative or adjunctive treatments for this severe congenital disorder of glycosylation.
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