Mannose supplementation in PMM2-CDG

Orphanet Journal of Rare Diseases

Ingrid DuChesne¹  Julien H. Park¹  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;    Mannose;    Galactose;    Therapy;   

DOI  :  10.1186/s13023-021-01988-x

来源: Springer

【 摘 要 】

In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Our paper “Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)” has shown that further investigation of mannose in PMM2-CDG is worthwhile alongside other treatment options and should not be dismissed off-hand without the willingness to prove or disprove it in controlled prospective clinical trials.

【 授权许可】

CC BY