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Nature Research, Nature Medicine, 1(18), p. 71-73, 2011

DOI: 10.1038/nm.2548

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Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

Journal article published in 2011 by Anette Schneider, Christian Thiel, Jan Rindermann, Charles DeRossi, Diana Popovici, Georg F. Hoffmann, Hermann-Josef Gröne, Christian Körner
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC 5.4.2.8) leading to a multisystemic disease with severe psychomotor and mental retardation. In a hypomorphic Pmm2 mouse model, we were able to overcome embryonic lethality by feeding mannose to pregnant dams. The results underline the essential role of glycosylation in embryonic development and may open new treatment options for this disease.