Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannose found no further mention in the design of a potential therapy for PMM2-CDG in the past years, as it applies as ineffective. This retrospective study analyzes the first long term mannose supplementation in 20 PMM2-CDG patients. Mannose was given at a total of 1-2 g mannose/kg b.w./d divided into 5 single doses over a mean time of 60,7 months. Protein glycosylation, blood mannose concentration and clinical presentation were monitored in everyday clinical practice.
Results After a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation.
Conclusion Long-term dietary D-mannose supplementation shows biological effects in PMM2-CDG, an inherited disorder of mannose metabolism. It improves glycosylation in the majority of patients and could become the first cornerstone in the treatment of this disease.
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Posted 13 Aug, 2020
On 22 Sep, 2020
On 04 Sep, 2020
Received 01 Sep, 2020
Received 30 Aug, 2020
On 25 Aug, 2020
On 23 Aug, 2020
Invitations sent on 22 Aug, 2020
On 07 Aug, 2020
On 06 Aug, 2020
On 06 Aug, 2020
On 07 Jul, 2020
Received 05 Jul, 2020
Received 04 Jul, 2020
On 20 Jun, 2020
On 18 Jun, 2020
Invitations sent on 17 Jun, 2020
On 29 Apr, 2020
On 28 Apr, 2020
On 28 Apr, 2020
On 28 Apr, 2020
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Posted 13 Aug, 2020
On 22 Sep, 2020
On 04 Sep, 2020
Received 01 Sep, 2020
Received 30 Aug, 2020
On 25 Aug, 2020
On 23 Aug, 2020
Invitations sent on 22 Aug, 2020
On 07 Aug, 2020
On 06 Aug, 2020
On 06 Aug, 2020
On 07 Jul, 2020
Received 05 Jul, 2020
Received 04 Jul, 2020
On 20 Jun, 2020
On 18 Jun, 2020
Invitations sent on 17 Jun, 2020
On 29 Apr, 2020
On 28 Apr, 2020
On 28 Apr, 2020
On 28 Apr, 2020
Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannose found no further mention in the design of a potential therapy for PMM2-CDG in the past years, as it applies as ineffective. This retrospective study analyzes the first long term mannose supplementation in 20 PMM2-CDG patients. Mannose was given at a total of 1-2 g mannose/kg b.w./d divided into 5 single doses over a mean time of 60,7 months. Protein glycosylation, blood mannose concentration and clinical presentation were monitored in everyday clinical practice.
Results After a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation.
Conclusion Long-term dietary D-mannose supplementation shows biological effects in PMM2-CDG, an inherited disorder of mannose metabolism. It improves glycosylation in the majority of patients and could become the first cornerstone in the treatment of this disease.
Figure 1
Figure 2