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Comment
. 2021 Aug 11;16(1):359.
doi: 10.1186/s13023-021-01988-x.

Mannose supplementation in PMM2-CDG

Roman Taday #  1 , Julien H Park #  1 , Marianne Grüneberg  1 , Ingrid DuChesne  1 , Janine Reunert  1 , Thorsten Marquardt  2
Affiliations
Comment

Mannose supplementation in PMM2-CDG

Roman Taday et al. Orphanet J Rare Dis. .

Abstract

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.

Keywords: Congenital disorder of glycosylation; Galactose; Mannose; PMM2; Therapy.

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Conflict of interest statement

The authors declare that they have no competing interests.

Comment on

References

    1. Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, et al. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. Orphanet J Rare Dis. 2021;16(1):102. doi: 10.1186/s13023-021-01751-2. - DOI - PMC - PubMed
    1. Taday R, Grüneberg M, DuChesne I, Reunert J, Marquardt T. Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) Orphanet J Rare Dis. 2020;15(1):258. doi: 10.1186/s13023-020-01528-z. - DOI - PMC - PubMed
    1. Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, et al. D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. Orphanet J Rare Dis. 2021;16(1):138. doi: 10.1186/s13023-020-01609-z. - DOI - PMC - PubMed
    1. Panneerselvam K, Freeze HH. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J Clin Invest. 1996;97(6):1478–1487. doi: 10.1172/JCI118570. - DOI - PMC - PubMed
    1. Rush JS, Panneerselvam K, Waechter CJ, Freeze HH. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG) Glycobiology. 2000;10(8):829–835. doi: 10.1093/glycob/10.8.829. - DOI - PubMed

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