Dietary Mannose Supplementation in Phosphomannomutase 2 Deficiency (PMM2-CDG)

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2020 Sep 23

PMID 32962735

Citations 8

Authors

Roman Taday

Marianne Gruneberg

Ingrid DuChesne

Janine Reunert

Thorsten Marquardt

Affiliations

Soon will be listed here.

Abstract

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 to be 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 57,75 ± 25,85 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: Dietary mannose supplementation shows biological effects in PMM2-CDG patients improving glycosylation in the majority of patients. A double-blind randomized study is needed to examine the role of mannose in the design of a therapy for children with PMM2-CDG in more detail.

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