Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Orphanet Journal of Rare Diseases

Ingrid DuChesne¹  Janine Reunert¹  Thorsten Marquardt¹  Roman Taday¹  Marianne Grüneberg¹ 

[1] Department of General Pediatrics, University Children’s Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany;

关键词: PMM2;    Congenital disorder of glycosylation (CDG);    Glycoprotein profile;    Mannose;    Therapy;   

DOI  :  10.1186/s13023-020-01528-z

来源: Springer

【 摘 要 】

BackgroundPMM2-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.ResultsAfter a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation.ConclusionDietary 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.

【 授权许可】

CC BY