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Nat Med. 2011 Dec 11;18(1):71-3. doi: 10.1038/nm.2548.

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

Author information

1
Center for Child and Adolescent Medicine and Center for Metabolic Diseases Heidelberg, Department Kinderheilkunde I, Heidelberg, Germany.

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.

PMID:
22157680
DOI:
10.1038/nm.2548
[Indexed for MEDLINE]

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