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Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Thorsten Marquardt
University Children’s Hospital Münster
Corresponding Author
ORCiD: https://orcid.org/0000-0002-9982-2981
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Diseases.
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.
Keywords
PMM2, Congenital disorder of glycosylation (CDG), glycoprotein profile, mannose, therapy
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CURRENT STATUS: Published
Version 2
Posted 13 Aug, 2020
Published
On 22 Sep, 2020
No community comments so far
Editorial decision: Accept
On 04 Sep, 2020
Review #2 received
Received 01 Sep, 2020
Review #1 received
Received 30 Aug, 2020
Reviewer #2 agreed
On 25 Aug, 2020
Reviewer #1 agreed
On 23 Aug, 2020
Reviewers invited
Invitations sent on 22 Aug, 2020
Editor assigned
On 07 Aug, 2020
Submission checks complete
On 06 Aug, 2020
Editor invited
On 06 Aug, 2020
No comments provided
Editorial decision: Major revision
On 07 Jul, 2020
Review #2 received
Received 05 Jul, 2020
Review #1 received
Received 04 Jul, 2020
Reviewer #2 agreed
On 20 Jun, 2020
Reviewer #1 agreed
On 18 Jun, 2020
Reviewers invited
Invitations sent on 17 Jun, 2020
Editor assigned
On 29 Apr, 2020
First submitted
On 28 Apr, 2020
Submission checks complete
On 28 Apr, 2020
Editor invited
On 28 Apr, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Thorsten Marquardt
University Children’s Hospital Münster
Corresponding Author
ORCiD: https://orcid.org/0000-0002-9982-2981
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 2
Posted 13 Aug, 2020
Published
On 22 Sep, 2020
No community comments so far
Editorial decision: Accept
On 04 Sep, 2020
Review #2 received
Received 01 Sep, 2020
Review #1 received
Received 30 Aug, 2020
Reviewer #2 agreed
On 25 Aug, 2020
Reviewer #1 agreed
On 23 Aug, 2020
Reviewers invited
Invitations sent on 22 Aug, 2020
Editor assigned
On 07 Aug, 2020
Submission checks complete
On 06 Aug, 2020
Editor invited
On 06 Aug, 2020
No comments provided
Editorial decision: Major revision
On 07 Jul, 2020
Review #2 received
Received 05 Jul, 2020
Review #1 received
Received 04 Jul, 2020
Reviewer #2 agreed
On 20 Jun, 2020
Reviewer #1 agreed
On 18 Jun, 2020
Reviewers invited
Invitations sent on 17 Jun, 2020
Editor assigned
On 29 Apr, 2020
First submitted
On 28 Apr, 2020
Submission checks complete
On 28 Apr, 2020
Editor invited
On 28 Apr, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Diseases.
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